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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511455C>G;81511457A>T;81511465G>C;81511467T>A;81511477G>A;81511488C>A] , CM000679.2:g.[81511455C>G;81511457A>T;81511465G>C;81511467T>A;81511477G>A;81511488C>A] | GRCh38 |
| NC_000017.10:g.[79478481C>G;79478483A>T;79478491G>C;79478493T>A;79478503G>A;79478514C>A] , CM000679.1:g.[79478481C>G;79478483A>T;79478491G>C;79478493T>A;79478503G>A;79478514C>A] | GRCh37 |
| NC_000017.9:g.[77093076C>G;77093078A>T;77093086G>C;77093088T>A;77093098G>A;77093109C>A] | NCBI36 |
| NG_011433.1:g.[6314G>T;6325C>T;6335A>T;6337C>G;6345T>A;6347G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000466346.2:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000571691.6:c.[430G>T;441C>T;451A>T;453C>G;461T>A;463G>C] | ENSP00000461407.2:p.[Gly144Cys;Leu147=;Ile151Phe;Ile151Met;Le... | |
| ENST00000571721.6:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000460660.2:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000572105.7:c.[543G>T;554C>T;564A>T;566C>G;574T>A;576G>C] | ENSP00000462823.1:p.[Arg181Ser;Ser185Phe;Pro188=;Ser189Cys;Tr... | |
| ENST00000573283.7:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] MANE Select | ENSP00000458435.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000574671.6:n.[902G>T;913C>T;923A>T;925C>G;933T>A;935G>C] | ||
| ENST00000575659.6:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000459119.2:p.[Gly168Cys;Leu171=;Ile175Trp;Leu178Gln;As... | |
| ENST00000575994.6:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000460464.2:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000576214.3:n.[803G>T;814C>T;824A>T;826C>G;834T>A;836G>C] | ||
| ENST00000576544.6:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000461672.1:p.[Gly168Cys;Leu171=;Ile175Trp;Leu178Gln;As... | |
| ENST00000615544.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000477968.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000644774.2:c.[475G>T;486C>T;496A>T;498C>G;506T>A;508G>C] | ENSP00000493648.2:p.[Gly159Cys;Leu162=;Ile166Phe;Ile166Met;Le... | |
| ENST00000679410.1:n.[626G>T;637C>T;647A>T;649C>G;657T>A;659G>C] | ||
| ENST00000679480.1:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000506201.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000679535.1:n.[803G>T;814C>T;824A>T;826C>G;834T>A;836G>C] | ||
| ENST00000679778.1:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000505235.1:p.[Gly168Cys;Leu171=;Ile175Trp;Leu178Gln;As... | |
| ENST00000680227.1:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000506253.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000680727.1:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000505193.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000681052.1:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000505060.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000681092.1:c.[*306G>T;*317C>T;*327A>T;*329C>G;*337T>A;*339G>C] | ENSP00000506720.1:n.[*306G>T;*317C>T;*327A>T;*329C>G;*337T>A;... | |
| ENST00000681842.1:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000506126.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000331925.6:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000331514.2:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000571691.5:c.[475G>T;486C>T;496A>T;498C>G;506T>A;508G>C] | ENSP00000461407.1:p.[Gly159Cys;Leu162=;Ile166Phe;Ile166Met;Le... | |
| ENST00000572105.6:c.[543G>T;554C>T;564A>T;566C>G;574T>A;576G>C] | ENSP00000462823.1:p.[Arg181Ser;Ser185Phe;Pro188=;Ser189Cys;Tr... | |
| ENST00000573283.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000458435.1:p.[Gly168Cys;Leu171=;Ile175Ter] | |
| ENST00000574671.5:n.[361G>T;372C>T;382A>T;384C>G;392T>A;394G>C] | ||
| ENST00000575087.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000459124.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000575659.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000459119.1:p.[Gly168Cys;Leu171=;Ile175Trp;Leu178Gln;As... | |
| ENST00000575842.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000458162.1:p.[Gly168Cys;Leu171=;Ile175Ser;Leu178Gln;As... | |
| ENST00000575994.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000460464.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Le... | |
| ENST00000576209.5:n.[387G>T;398C>T;408A>T;410C>G;418T>A;420G>C] | ||
| ENST00000576214.2:n.[700G>T;711C>T;721A>T;723C>G;731T>A;733G>C] | ||
| ENST00000576544.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000461672.1:p.[Gly168Cys;Leu171=;Ile175Trp;Leu178Gln;As... | |
| ENST00000576917.5:n.[555G>T;566C>T;576A>T;578C>G;586T>A;588G>C] | ||
| ENST00000615544.4:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | ENSP00000477968.1:p.[Gly168Cys;Leu171=;Ile175Trp;Leu178Gln;As... | |
| NM_001199954.1:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | NP_001186883.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Leu17... | |
| NM_001614.3:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | NP_001605.1:p.[Gly168Cys;Leu171=;Ile175Trp;Leu178Gln;Asp179Hi... | |
| NR_037688.1:n.[641G>T;652C>T;662A>T;664C>G;672T>A;674G>C] | ||
| NM_001199954.2:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | NP_001186883.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Leu17... | |
| NM_001614.4:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | NP_001605.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Leu178_A... | |
| NR_037688.2:n.[574G>T;585C>T;595A>T;597C>G;605T>A;607G>C] | ||
| NM_001614.5:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] MANE Select | NP_001605.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Leu178_A... | |
| NR_037688.3:n.[574G>T;585C>T;595A>T;597C>G;605T>A;607G>C] | ||
| NM_001199954.3:c.[502G>T;513C>T;523A>T;525C>G;533T>A;535G>C] | NP_001186883.1:p.[Gly168Cys;Leu171=;Ile175Phe;Ile175Met;Leu17... |