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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511544G>C;81511564G>C;81511566G>A;81511569A>C] , CM000679.2:g.[81511544G>C;81511564G>C;81511566G>A;81511569A>C] | GRCh38 |
| NC_000017.10:g.[79478570G>C;79478590G>C;79478592G>A;79478595A>C] , CM000679.1:g.[79478570G>C;79478590G>C;79478592G>A;79478595A>C] | GRCh37 |
| NC_000017.9:g.[77093165G>C;77093185G>C;77093187G>A;77093190A>C] | NCBI36 |
| NG_011433.1:g.[6233T>G;6236C>T;6238C>G;6258C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000466346.2:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000571691.6:c.[349T>G;352C>T;354C>G;374C>G] | ENSP00000461407.2:p.[Ser117Ala;Leu118Phe;Leu118=;Thr125Ser] | |
| ENST00000571721.6:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000460660.2:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000572105.7:c.[462T>G;465C>T;467C>G;487C>G] | ENSP00000462823.1:p.[Cys154Trp;Pro155=;Ser156Cys;Leu163Val] | |
| ENST00000573283.7:c.[421T>G;424C>T;426C>G;446C>G] MANE Select | ENSP00000458435.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000574671.6:n.[821T>G;824C>T;826C>G;846C>G] | ||
| ENST00000575659.6:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000459119.2:p.[Ser141Ala;Leu142Trp;Thr149Ser] | |
| ENST00000575994.6:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000460464.2:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000576214.3:n.[722T>G;725C>T;727C>G;747C>G] | ||
| ENST00000576544.6:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000461672.1:p.[Ser141Ala;Leu142Ter] | |
| ENST00000615544.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000477968.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000644774.2:c.[394T>G;397C>T;399C>G;419C>G] | ENSP00000493648.2:p.[Ser132Ala;Leu133Phe;Leu133=;Thr140Ser] | |
| ENST00000679410.1:n.[545T>G;548C>T;550C>G;570C>G] | ||
| ENST00000679480.1:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000506201.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000679535.1:n.[722T>G;725C>T;727C>G;747C>G] | ||
| ENST00000679778.1:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000505235.1:p.[Ser141Ala;Leu142Trp;Thr149Ser] | |
| ENST00000680227.1:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000506253.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000680727.1:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000505193.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000681052.1:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000505060.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000681092.1:c.[*225T>G;*228C>T;*230C>G;*250C>G] | ENSP00000506720.1:n.[*225T>G;*228C>T;*230C>G;*250C>G] | |
| ENST00000681842.1:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000506126.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000331925.6:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000331514.2:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000570382.1:c.[349T>G;352C>T;354C>G;374C>G] | ENSP00000466346.1:p.[Ser117Ala;Leu118Phe;Leu118=;Thr125Ser] | |
| ENST00000571691.5:c.[394T>G;397C>T;399C>G;419C>G] | ENSP00000461407.1:p.[Ser132Ala;Leu133Phe;Leu133=;Thr140Ser] | |
| ENST00000571721.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000460660.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000572105.6:c.[462T>G;465C>T;467C>G;487C>G] | ENSP00000462823.1:p.[Cys154Trp;Pro155=;Ser156Cys;Leu163Val] | |
| ENST00000573283.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000458435.1:p.[Ser141Ala;Leu142Trp;Thr149Ser] | |
| ENST00000574671.5:n.[280T>G;283C>T;285C>G;305C>G] | ||
| ENST00000575087.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000459124.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000575659.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000459119.1:p.[Ser141Ala;Leu142Trp;Thr149Ser] | |
| ENST00000575842.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000458162.1:p.[Ser141Ala;Leu142Ser;Thr149Ser] | |
| ENST00000575994.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000460464.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| ENST00000576209.5:n.[306T>G;309C>T;311C>G;331C>G] | ||
| ENST00000576214.2:n.[619T>G;622C>T;624C>G;644C>G] | ||
| ENST00000576544.5:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000461672.1:p.[Ser141Ala;Leu142Ter] | |
| ENST00000576917.5:n.[474T>G;477C>T;479C>G;499C>G] | ||
| ENST00000615544.4:c.[421T>G;424C>T;426C>G;446C>G] | ENSP00000477968.1:p.[Ser141Ala;Leu142Ter] | |
| NM_001199954.1:c.[421T>G;424C>T;426C>G;446C>G] | NP_001186883.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| NM_001614.3:c.[421T>G;424C>T;426C>G;446C>G] | NP_001605.1:p.[Ser141Ala;Leu142Ter] | |
| NR_037688.1:n.[560T>G;563C>T;565C>G;585C>G] | ||
| NM_001199954.2:c.[421T>G;424C>T;426C>G;446C>G] | NP_001186883.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| NM_001614.4:c.[421T>G;424C>T;426C>G;446C>G] | NP_001605.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| NR_037688.2:n.[493T>G;496C>T;498C>G;518C>G] | ||
| NM_001614.5:c.[421T>G;424C>T;426C>G;446C>G] MANE Select | NP_001605.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] | |
| NR_037688.3:n.[493T>G;496C>T;498C>G;518C>G] | ||
| NM_001199954.3:c.[421T>G;424C>T;426C>G;446C>G] | NP_001186883.1:p.[Ser141Ala;Leu142Phe;Leu142=;Thr149Ser] |