This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511544G>C;81511582G>A;81511584T>C;81511601G>C] , CM000679.2:g.[81511544G>C;81511582G>A;81511584T>C;81511601G>C] | GRCh38 |
| NC_000017.10:g.[79478570G>C;79478608G>A;79478610T>C;79478627G>C] , CM000679.1:g.[79478570G>C;79478608G>A;79478610T>C;79478627G>C] | GRCh37 |
| NC_000017.9:g.[77093165G>C;77093203G>A;77093205T>C;77093222G>C] | NCBI36 |
| NG_011433.1:g.[6201C>G;6218A>G;6220C>T;6258C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000466346.2:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000571691.6:c.[340-23C>G;340-6A>G;340-4C>T;374C>G] | ENSP00000461407.2:p.Thr125Ser | |
| ENST00000571721.6:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000460660.2:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000572105.7:c.[430C>G;447A>G;449C>T;487C>G] | ENSP00000462823.1:p.[Arg144Gly;Pro149=;Ser150Phe;Leu163Val] | |
| ENST00000573283.7:c.[389C>G;406A>G;408C>T;446C>G] MANE Select | ENSP00000458435.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000574671.6:n.[789C>G;806A>G;808C>T;846C>G] | ||
| ENST00000575659.6:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000459119.2:p.[Pro130Arg;Ile136Asp;Thr149Ser] | |
| ENST00000575994.6:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000460464.2:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000576214.3:n.[690C>G;707A>G;709C>T;747C>G] | ||
| ENST00000576544.6:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000461672.1:p.[Pro130Arg;Ile136Asp;Thr149Ser] | |
| ENST00000615544.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000477968.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000644774.2:c.[362C>G;379A>G;381C>T;419C>G] | ENSP00000493648.2:p.[Pro121Arg;Ile127Val;Ile127=;Thr140Ser] | |
| ENST00000679410.1:n.[513C>G;530A>G;532C>T;570C>G] | ||
| ENST00000679480.1:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000506201.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000679535.1:n.[690C>G;707A>G;709C>T;747C>G] | ||
| ENST00000679778.1:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000505235.1:p.[Pro130Arg;Ile136Gly;Thr149Ser] | |
| ENST00000680227.1:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000506253.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000680727.1:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000505193.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000681052.1:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000505060.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000681092.1:c.[*193C>G;*210A>G;*212C>T;*250C>G] | ENSP00000506720.1:n.[*193C>G;*210A>G;*212C>T;*250C>G] | |
| ENST00000681842.1:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000506126.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000331925.6:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000331514.2:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000570382.1:c.[340-23C>G;340-6A>G;340-4C>T;374C>G] | ENSP00000466346.1:p.Thr125Ser | |
| ENST00000571691.5:c.[362C>G;379A>G;381C>T;419C>G] | ENSP00000461407.1:p.[Pro121Arg;Ile127Val;Ile127=;Thr140Ser] | |
| ENST00000571721.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000460660.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000572105.6:c.[430C>G;447A>G;449C>T;487C>G] | ENSP00000462823.1:p.[Arg144Gly;Pro149=;Ser150Phe;Leu163Val] | |
| ENST00000573283.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000458435.1:p.[Pro130Arg;Ile136Gly;Thr149Ser] | |
| ENST00000574671.5:n.[248C>G;265A>G;267C>T;305C>G] | ||
| ENST00000575087.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000459124.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000575659.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000459119.1:p.[Pro130Arg;Ile136Asp;Thr149Ser] | |
| ENST00000575842.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000458162.1:p.[Pro130Arg;Ile136Ala;Thr149Ser] | |
| ENST00000575994.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000460464.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| ENST00000576209.5:n.[274C>G;291A>G;293C>T;331C>G] | ||
| ENST00000576214.2:n.[587C>G;604A>G;606C>T;644C>G] | ||
| ENST00000576544.5:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000461672.1:p.[Pro130Arg;Ile136Asp;Thr149Ser] | |
| ENST00000576917.5:n.[442C>G;459A>G;461C>T;499C>G] | ||
| ENST00000615544.4:c.[389C>G;406A>G;408C>T;446C>G] | ENSP00000477968.1:p.[Pro130Arg;Ile136Asp;Thr149Ser] | |
| NM_001199954.1:c.[389C>G;406A>G;408C>T;446C>G] | NP_001186883.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| NM_001614.3:c.[389C>G;406A>G;408C>T;446C>G] | NP_001605.1:p.[Pro130Arg;Ile136Asp;Thr149Ser] | |
| NR_037688.1:n.[528C>G;545A>G;547C>T;585C>G] | ||
| NM_001199954.2:c.[389C>G;406A>G;408C>T;446C>G] | NP_001186883.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| NM_001614.4:c.[389C>G;406A>G;408C>T;446C>G] | NP_001605.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| NR_037688.2:n.[461C>G;478A>G;480C>T;518C>G] | ||
| NM_001614.5:c.[389C>G;406A>G;408C>T;446C>G] MANE Select | NP_001605.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] | |
| NR_037688.3:n.[461C>G;478A>G;480C>T;518C>G] | ||
| NM_001199954.3:c.[389C>G;406A>G;408C>T;446C>G] | NP_001186883.1:p.[Pro130Arg;Ile136Val;Ile136=;Thr149Ser] |