UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.[29942939C>G;29942948C>G;29942953T>A;29942965G>C;29942982T>A;29942984G>A;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943279A>C;29943287A>G;29943292A>T;29943337G>A;29943338G>C;29943342G>T;29943377C>A;29943451A>T;29943462T>C;29943463T>A;29943479T>G;29943494G>C;29943495T>G] , CM000668.2:g.[29942939C>G;29942948C>G;29942953T>A;29942965G>C;29942982T>A;29942984G>A;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943279A>C;29943287A>G;29943292A>T;29943337G>A;29943338G>C;29943342G>T;29943377C>A;29943451A>T;29943462T>C;29943463T>A;29943479T>G;29943494G>C;29943495T>G] | GRCh38 |
| NC_000006.11:g.[29910716C>G;29910725C>G;29910730T>A;29910742G>C;29910759T>A;29910761G>A;29910767G>C;29910771C>T;29910773C>G;29910774T>C;29910777G>T;29910779G>C;29911056A>C;29911064A>G;29911069A>T;29911114G>A;29911115G>C;29911119G>T;29911154C>A;29911228A>T;29911239T>C;29911240T>A;29911256T>G;29911271G>C;29911272T>G] , CM000668.1:g.[29910716C>G;29910725C>G;29910730T>A;29910742G>C;29910759T>A;29910761G>A;29910767G>C;29910771C>T;29910773C>G;29910774T>C;29910777G>T;29910779G>C;29911056A>C;29911064A>G;29911069A>T;29911114G>A;29911115G>C;29911119G>T;29911154C>A;29911228A>T;29911239T>C;29911240T>A;29911256T>G;29911271G>C;29911272T>G] | GRCh37 |
| NC_000006.10:g.[30018695C>G;30018704C>G;30018709T>A;30018721G>C;30018738T>A;30018740G>A;30018746G>C;30018750C>T;30018752C>G;30018753T>C;30018756G>T;30018758G>C;30019035A>C;30019043A>G;30019048A>T;30019093G>A;30019094G>C;30019098G>T;30019133C>A;30019207A>T;30019218T>C;30019219T>A;30019235T>G;30019250G>C;30019251T>G] | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000492789.2:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706892.1:n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;631A>C;639A>G;644A>T;689G>A;690G>C;694G>T;729C>A;803A>T;814T>C;815T>A;831T>G;846G>C;847T>G] | ||
| ENST00000706893.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516609.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706894.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516610.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706895.1:n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;631A>C;639A>G;644A>T;689G>A;690G>C;694G>T;729C>A;803A>T;814T>C;815T>A;831T>G;846G>C;847T>G] | ||
| ENST00000706896.1:n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;631A>C;639A>G;644A>T;689G>A;690G>C;694G>T;729C>A;803A>T;814T>C;815T>A;831T>G;846G>C;847T>G] | ||
| ENST00000706897.1:n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;631A>C;639A>G;644A>T;689G>A;690G>C;694G>T;729C>A;803A>T;814T>C;815T>A;831T>G;846G>C;847T>G] | ||
| ENST00000706898.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516611.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706899.1:n.[532C>G;541C>G;546T>A;558G>C;575T>A;577G>A;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;631A>C;639A>G;644A>T;689G>A;690G>C;694G>T;729C>A;803A>T;814T>C;815T>A;831T>G;846G>C;847T>G] | ||
| ENST00000706900.1:c.[172C>G;181C>G;186T>A;198G>C;215T>A;217G>A;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;271A>C;279A>G;284A>T;329G>A;330G>C;334G>T;369C>A;443A>T;454T>C;455T>A;471T>G;486G>C;487T>G] | ENSP00000516617.1:p.[Gln58Glu;Arg61Gly;Asn62Lys;Gln66His;Val7... | |
| ENST00000706901.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516612.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706902.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516613.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706903.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516614.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706904.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516615.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000706905.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000516616.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000376809.10:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] MANE Select | ENSP00000366005.5:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000638375.1:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000492789.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000376802.2:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000365998.2:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000376806.9:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000366002.5:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000376809.9:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000366005.5:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000396634.5:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | ENSP00000379873.1:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val1... | |
| ENST00000461903.1:n.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;596A>C;604A>G;609A>T;654G>A;655G>C;659G>T;694C>A;768A>T;779T>C;780T>A;796T>G;811G>C;812T>G] | ||
| ENST00000479320.5:n.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;596A>C;604A>G;609A>T;654G>A;655G>C;659G>T;694C>A;768A>T;779T>C;780T>A;796T>G;811G>C;812T>G] | ||
| ENST00000495183.5:n.[258C>G;267C>G;272T>A;284G>C;301T>A;303G>A;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;598A>C;606A>G;611A>T;656G>A;657G>C;661G>T;696C>A;770A>T;781T>C;782T>A;798T>G;813G>C;814T>G] | ||
| ENST00000496081.5:n.[177+85C>G;177+94C>G;177+99T>A;177+111G>C;177+128T>A;177+130G>A;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;178-6A>C;180A>G;185A>T;230G>A;231G>C;235G>T;270C>A;344A>T;355T>C;356T>A;372T>G;387G>C;388T>G] | ||
| NM_002116.7:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] | NP_002107.3:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val100_Asp... | |
| NM_002116.8:c.[256C>G;265C>G;270T>A;282G>C;299T>A;301G>A;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;355A>C;363A>G;368A>T;413G>A;414G>C;418G>T;453C>A;527A>T;538T>C;539T>A;555T>G;570G>C;571T>G] MANE Select | NP_002107.3:p.[Gln86Glu;Arg89Gly;Asn90Lys;Gln94His;Val100Glu;... |