Inspect variant sequences

The –print-protein and –print-protein-pretty options displays the full variant protein sequence in the variant_protein_seq field of the info when the genomic variant hits a protein-coding transcript.

Missense substitution

$ transvar ganno -i 'chr1:g.115256530G>A' --ensembl --print-protein

chr1:g.115256530G>A  ENST00000369535 (protein_coding)        NRAS    -
   chr1:g.115256530G>A/c.181C>T/p.Q61*       inside_[cds_in_exon_3]
   CSQN=Nonsense;variant_protein_seq=MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQ
   VVIDGETCLLDILDTAG*;codon_pos=115256528-115256529-115256530;ref_codon_seq=CAA;
   aliases=ENSP00000358548;source=Ensembl

–print-protein-pretty output is more human-readable and highlight the mutation in brackets.

$ transvar ganno --ccds -i 'chr3:g.178936091G>A' --print-protein-pretty

chr3:g.178936091G>A  CCDS43171.1 (protein_coding)    PIK3CA  +
   chr3:g.178936091G>A/c.1633G>A/p.E545K     inside_[cds_in_exon_9]
   CSQN=Missense;dbsnp=rs104886003(chr3:178936091G>A);variant_protein_seq=MPPRPS
   SGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAEREEFF
   DETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
   SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSE
   QLKLCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTA
   TPYMNGETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDI
   YIPDLPRAARLCLSICSVKGRKGAKEEHCPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNK
   ETPCLELEFDWFSSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEIT_
   _[E>K]__QEKDFLWSHRHYCVTIPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGF
   AVRCLEKYLTDDKLSQYLIQLVQVLKYEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESY
   CRACGMYLKHLNRQVEAMEKLINLTDILKQEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEE
   CRIMSSAKRPLWLNWENPDIMSELLFQNNEIIFKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCV
   GLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQWLKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIM
   VKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDFLIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFI
   NLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFMKQMNDAHHGGWTTKMDWIFHTIKQHALN*;codon_
   pos=178936091-178936092-178936093;ref_codon_seq=GAG;source=CCDS

The alphabet transformation option –aa3 applies here as well.

$ transvar ganno -i 'chr1:g.115256530G>A' --ensembl --print-protein-pretty --aa3

chr1:g.115256530G>A  ENST00000369535 (protein_coding)        NRAS    -
   chr1:g.115256530G>A/c.181C>T/p.Gln61X     inside_[cds_in_exon_3]
   CSQN=Missense;variant_protein_seq=MetThrGluTyrLysLeuValValValGlyAlaGlyGlyValG
   lyLysSerAlaLeuThrIleGlnLeuIleGlnAsnHisPheValAspGluTyrAspProThrIleGluAspSerTyr
   ArgLysGlnValValIleAspGlyGluThrCysLeuLeuAspIleLeuAspThrAlaGly__[GluGluTyrSerAl
   aMetArgAspGlnTyrMetArgThrGlyGluGlyPheLeuCysValPheAlaIleAsnAsnSerLysSerPheAlaA
   spIleAsnLeuTyrArgGluGlnIleLysArgValLysAspSerAspAspValProMetValLeuValGlyAsnLys
   CysAspLeuProThrArgThrValAspThrLysGlnAlaHisGluLeuAlaLysSerTyrGlyIleProPheIleGl
   uThrSerAlaLysThrArgGlnGlyValGluAspAlaPheTyrThrLeuValArgGluIleArgGlnTyrArgMetL
   ysLysLeuAsnSerSerAspAspGlyThrGlnGlyCysMetGlyLeuProCysValValMet>X];codon_pos=1
   15256528-115256529-115256530;ref_codon_seq=CAA;aliases=ENSP00000358548;source
   =Ensembl

Deletion

$ transvar canno --ccds -i 'CCDS8856:c.769_771delGGG' --print-protein-pretty

CCDS8856:c.769_771delGGG     CCDS8856.1 (protein_coding)     AAAS    -
   chr12:g.53703427_53703429delCCC/c.769_771delGGG/p.G257delG        inside_[cds_in_exon_8]
   CSQN=InFrameDeletion;left_align_gDNA=g.53703424_53703426delCCC;unaligned_gDNA
   =g.53703424_53703426delCCC;left_align_cDNA=c.766_768delGGG;unalign_cDNA=c.769
   _771delGGG;left_align_protein=p.G256delG;unalign_protein=p.G257delG;variant_p
   rotein_seq=MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGRLDHGTR
   TAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLIAEF
   AQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIW
   TLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSG__[G_deletion]__RLLSASPVDAAIRVWDVSTETCVPL
   PWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFP
   ERCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNS
   PVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIH
   DLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL*;source=CCDS

Insertion

$ transvar ganno -i 'chr2:g.69741762_69741763insTGC' --ccds --print-protein-pretty

chr2:g.69741762_69741763insTGC       CCDS1893.2 (protein_coding)     AAK1    -
   chr2:g.69741780_69741782dupCTG/c.1614_1616dupGCA/p.Q546dupQ       inside_[cds_in_exon_12]
   CSQN=InFrameInsertion;left_align_gDNA=g.69741762_69741763insTGC;unalign_gDNA=
   g.69741762_69741763insTGC;left_align_cDNA=c.1596_1597insCAG;unalign_cDNA=c.16
   14_1616dupGCA;left_align_protein=p.Y532_Q533insQ;unalign_protein=p.Q539dupQ;v
   ariant_protein_seq=MKKFFDSRREQGGSGLGSGSSGGGGSTSGLGSGYIGRVFGIGRQQVTVDEVLAEGGFA
   IVFLVRTSNGMKCALKRMFVNNEHDLQVCKREIQIMRDLSGHKNIVGYIDSSINNVSSGDVWEVLILMDFCRGGQVV
   NLMNQRLQTGFTENEVLQIFCDTCEAVARLHQCKTPIIHRDLKVENILLHDRGHYVLCDFGSATNKFQNPQTEGVNA
   VEDEIKKYTTLSYRAPEMVNLYSGKIITTKADIWALGCLLYKLCYFTLPFGESQVAICDGNFTIPDNSRYSQDMHCL
   IRYMLEPDPDKRPDIYQVSYFSFKLLKKECPIPNVQNSPIPAKLPEPVKASEAAAKKTQPKARLTDPIPTTETSIAP
   RQRPKAGQTQPNPGILPIQPALTPRKRATVQPPPQAAGSSNQPGLLASVPQPKPQAPPSQPLPQTQAKQPQAPPTPQ
   QTPSTQAQGLPAQAQATPQHQQQLFLKQQQQQQQPPPAQQQPAGTFYQQQQAQTQQFQAVHPATQKPAIAQFPVVSQ
   GGSQQQLMQNFYQQQQQQQQQQQQQQ__[insert_Q]__LATALHQQQLMTQQAALQQKPTMAAGQQPQPQPAAAP
   QPAPAQEPAIQAPVRQQPKVQTTPPPAVQGQKVGSLTPPSSPKTQRAGHRRILSDVTHSAVFGVPASKSTQLLQAAA
   AEASLNKSKSATTTPSGSPRTSQQNVYNPSEGSTWNPFDDDNFSKLTAEELLNKDFAKLGEGKHPEKLGGSAESLIP
   GFQSTQGDAFATTSFSAGTAEKRKGGQTVDSGLPLLSVSDPFIPLQVPDAPEKLIEGLKSPDTSLLLPDLLPMTDPF
   GSTSDAVIEKADVAVESLIPGLEPPVPQRLPSQTESVTSNRTDSLTGEDSLLDCSLLSNPTTDLLEEFAPTAISAPV
   HKAAEDSNLISGFDVPEGSDKVAEDEFDPIPVLITKNPQGGHSRNSSGSSESSLPNLARSLLLVDQLIDL*;phase
   =2;source=CCDS

Block substitution

$ transvar ganno -i "chr2:g.234183372_234183383del" --ccds --print-protein-pretty

chr2:g.234183372_234183383del        CCDS2502.2 (protein_coding)     ATG16L1 +
   chr2:g.234183372_234183383del12/c.845_856del12/p.H282_G286delinsR inside_[cds_in_exon_8]
   CSQN=MultiAAMissense;left_align_gDNA=g.234183372_234183383del12;unaligned_gDN
   A=g.234183372_234183383del12;left_align_cDNA=c.845_856del12;unalign_cDNA=c.84
   5_856del12;variant_protein_seq=MSSGLRAADFPRWKRHISEQLRRRDRLQRQAFEEIILQYNKLLEKS
   DLHSVLAQKLQAEKHDVPNRHEISPGHDGTWNDNQLQEMAQLRIKHQEELTELHKKRGELAQLVIDLNNQMQRKDRE
   MQMNEAKIAECLQTISDLETECLDLRTKLCDLERANQTLKDEYDALQITFTALEGKLRKTTEENQELVTRWMAEKAQ
   EANRLNAENEKDSRRRQARLQKELAEAAKEPLPVEQDDDIEVIVDETSDHTEETSPVRAISRAATRRSVSSFPVPQD
   NVDT__[HPGSG>R]__KEVRVPATALCVFDAHDGEVNAVQFSPGSRLLATGGMDRRVKLWEVFGEKCEFKGSLSGS
   NAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRTLKLWDLRSKVC
   IKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSRDDLLKVIDLRT
   NAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWSPSGSHVVSVD
   KGCKAVLWAQY*;source=CCDS
chr2:g.234183372_234183383del        CCDS2503.2 (protein_coding)     ATG16L1 +
   chr2:g.234183372_234183383del12/c.902_913del12/p.H301_G305delinsR inside_[cds_in_exon_9]
   CSQN=MultiAAMissense;left_align_gDNA=g.234183372_234183383del12;unaligned_gDN
   A=g.234183372_234183383del12;left_align_cDNA=c.902_913del12;unalign_cDNA=c.90
   2_913del12;variant_protein_seq=MSSGLRAADFPRWKRHISEQLRRRDRLQRQAFEEIILQYNKLLEKS
   DLHSVLAQKLQAEKHDVPNRHEISPGHDGTWNDNQLQEMAQLRIKHQEELTELHKKRGELAQLVIDLNNQMQRKDRE
   MQMNEAKIAECLQTISDLETECLDLRTKLCDLERANQTLKDEYDALQITFTALEGKLRKTTEENQELVTRWMAEKAQ
   EANRLNAENEKDSRRRQARLQKELAEAAKEPLPVEQDDDIEVIVDETSDHTEETSPVRAISRAATKRLSQPAGGLLD
   SITNIFGRRSVSSFPVPQDNVDT__[HPGSG>R]__KEVRVPATALCVFDAHDGEVNAVQFSPGSRLLATGGMDRRV
   KLWEVFGEKCEFKGSLSGSNAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARI
   VSGSHDRTLKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPER
   TELLSCSRDDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHS
   SSINAVAWSPSGSHVVSVDKGCKAVLWAQY*;source=CCDS
chr2:g.234183372_234183383del        CCDS54438.1 (protein_coding)    ATG16L1 +
   chr2:g.234183372_234183383del12/c.413_424del12/p.H138_G142delinsR inside_[cds_in_exon_5]
   CSQN=MultiAAMissense;left_align_gDNA=g.234183372_234183383del12;unaligned_gDN
   A=g.234183372_234183383del12;left_align_cDNA=c.413_424del12;unalign_cDNA=c.41
   3_424del12;variant_protein_seq=MSSGLRAADFPRWKRHISEQLRRRDRLQRQAFEEIILQYNKLLEKS
   DLHSVLAQKLQAEKHDVPNRHEIRRRQARLQKELAEAAKEPLPVEQDDDIEVIVDETSDHTEETSPVRAISRAATRR
   SVSSFPVPQDNVDT__[HPGSG>R]__KEVRVPATALCVFDAHDGEVNAVQFSPGSRLLATGGMDRRVKLWEVFGEK
   CEFKGSLSGSNAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRTL
   KLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSRD
   DLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAWS
   PSGSHVVSVDKGCKAVLWAQY*;source=CCDS

Frameshift sequence

$ transvar canno --ccds -i 'CCDS8856:c.769_770delGG' --print-protein-pretty

CCDS8856:c.769_770delGG      CCDS8856.1 (protein_coding)     AAAS    -
   chr12:g.53703428_53703429delCC/c.770_771delGG/p.G257Afs*65        inside_[cds_in_exon_8]
   CSQN=Frameshift;left_align_gDNA=g.53703424_53703425delCC;unaligned_gDNA=g.537
   03425_53703426delCC;left_align_cDNA=c.766_767delGG;unalign_cDNA=c.769_770delG
   G;variant_protein_seq=MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPL
   KTPGRLDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRWASSLHGSLFPHL
   SLRSEDLIAEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVL
   AVACQSCILIWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSG__[frameshift_GRLLSASPVDAAIRVW
   DVSTETCVPLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLG
   EPLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKP
   VILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQE
   PPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL*>AAALSFTRGCCYPGMGCLNRDLCPPSLVPRRW
   GDQPALVPRRQQNPGYHSFSCLSSLGGPDVDL*];source=CCDS

$ transvar canno -i 'CCDS54438:c.409_421del' --ccds --print-protein-pretty

CCDS54438:c.409_421del       CCDS54438.1 (protein_coding)    ATG16L1 +
   chr2:g.234183368_234183380del13/c.409_421del13/p.T137Lfs*5        inside_[cds_in_exon_5]
   CSQN=Frameshift;left_align_gDNA=g.234183367_234183379del13;unaligned_gDNA=g.2
   34183368_234183380del13;left_align_cDNA=c.408_420del13;unalign_cDNA=c.409_421
   del13;variant_protein_seq=MSSGLRAADFPRWKRHISEQLRRRDRLQRQAFEEIILQYNKLLEKSDLHSV
   LAQKLQAEKHDVPNRHEIRRRQARLQKELAEAAKEPLPVEQDDDIEVIVDETSDHTEETSPVRAISRAATRRSVSSF
   PVPQDNVD__[frameshift_THPGSGKEVRVPATALCVFDAHDGEVNAVQFSPGSRLLATGGMDRRVKLWEVFGE
   KCEFKGSLSGSNAGITSIEFDSAGSYLLAASNDFASRIWTVDDYRLRHTLTGHSGKVLSAKFLLDNARIVSGSHDRT
   LKLWDLRSKVCIKTVFAGSSCNDIVCTEQCVMSGHFDKKIRFWDIRSESIVREMELLGKITALDLNPERTELLSCSR
   DDLLKVIDLRTNAIKQTFSAPGFKCGSDWTRVVFSPDGSYVAAGSAEGSLYIWSVLTGKVEKVLSKQHSSSINAVAW
   SPSGSHVVSVDKGCKAVLWAQY*>LVKK*];source=CCDS