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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511455C>A;81511457A>T;81511464G>T;81511477G>C;81511479G>A;81511496A>C] , CM000679.2:g.[81511455C>A;81511457A>T;81511464G>T;81511477G>C;81511479G>A;81511496A>C] | GRCh38 |
| NC_000017.10:g.[79478481C>A;79478483A>T;79478490G>T;79478503G>C;79478505G>A;79478522A>C] , CM000679.1:g.[79478481C>A;79478483A>T;79478490G>T;79478503G>C;79478505G>A;79478522A>C] | GRCh37 |
| NC_000017.9:g.[77093076C>A;77093078A>T;77093085G>T;77093098G>C;77093100G>A;77093117A>C] | NCBI36 |
| NG_011433.1:g.[6306T>G;6323C>T;6325C>G;6338C>A;6345T>A;6347G>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000466346.2:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000571691.6:c.[422T>G;439C>T;441C>G;454C>A;461T>A;463G>T] | ENSP00000461407.2:p.[Ile141Ser;Leu147Phe;Leu147=;Leu152Met;Le... | |
| ENST00000571721.6:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000460660.2:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000572105.7:c.[535T>G;552C>T;554C>G;567C>A;574T>A;576G>T] | ENSP00000462823.1:p.[Ser179Ala;Pro184=;Ser185Cys;Ser189=;Trp1... | |
| ENST00000573283.7:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] MANE Select | ENSP00000458435.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000574671.6:n.[894T>G;911C>T;913C>G;926C>A;933T>A;935G>T] | ||
| ENST00000575659.6:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000459119.2:p.[Ile165Ser;Leu171=;Leu176Met;Leu178Gln;As... | |
| ENST00000575994.6:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000460464.2:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000576214.3:n.[795T>G;812C>T;814C>G;827C>A;834T>A;836G>T] | ||
| ENST00000576544.6:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000461672.1:p.[Ile165Ser;Leu171Ser;Leu176Met;Leu178Gln;... | |
| ENST00000615544.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000477968.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000644774.2:c.[467T>G;484C>T;486C>G;499C>A;506T>A;508G>T] | ENSP00000493648.2:p.[Ile156Ser;Leu162Phe;Leu162=;Leu167Met;Le... | |
| ENST00000679410.1:n.[618T>G;635C>T;637C>G;650C>A;657T>A;659G>T] | ||
| ENST00000679480.1:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000506201.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000679535.1:n.[795T>G;812C>T;814C>G;827C>A;834T>A;836G>T] | ||
| ENST00000679778.1:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000505235.1:p.[Ile165Ser;Leu171Trp;Leu176Met;Leu178Gln;... | |
| ENST00000680227.1:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000506253.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000680727.1:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000505193.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000681052.1:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000505060.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000681092.1:c.[*298T>G;*315C>T;*317C>G;*330C>A;*337T>A;*339G>T] | ENSP00000506720.1:n.[*298T>G;*315C>T;*317C>G;*330C>A;*337T>A;... | |
| ENST00000681842.1:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000506126.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000331925.6:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000331514.2:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000571691.5:c.[467T>G;484C>T;486C>G;499C>A;506T>A;508G>T] | ENSP00000461407.1:p.[Ile156Ser;Leu162Phe;Leu162=;Leu167Met;Le... | |
| ENST00000572105.6:c.[535T>G;552C>T;554C>G;567C>A;574T>A;576G>T] | ENSP00000462823.1:p.[Ser179Ala;Pro184=;Ser185Cys;Ser189=;Trp1... | |
| ENST00000573283.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000458435.1:p.[Ile165Ser;Leu171Trp;Leu176Met;Leu178Gln;... | |
| ENST00000574671.5:n.[353T>G;370C>T;372C>G;385C>A;392T>A;394G>T] | ||
| ENST00000575087.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000459124.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000575659.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000459119.1:p.[Ile165Ser;Leu171=;Leu176Met;Leu178Gln;As... | |
| ENST00000575842.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000458162.1:p.[Ile165Ser;Leu171Ser;Leu176Met;Leu178Gln;... | |
| ENST00000575994.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000460464.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Le... | |
| ENST00000576209.5:n.[379T>G;396C>T;398C>G;411C>A;418T>A;420G>T] | ||
| ENST00000576214.2:n.[692T>G;709C>T;711C>G;724C>A;731T>A;733G>T] | ||
| ENST00000576544.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000461672.1:p.[Ile165Ser;Leu171Ser;Leu176Met;Leu178Gln;... | |
| ENST00000576917.5:n.[547T>G;564C>T;566C>G;579C>A;586T>A;588G>T] | ||
| ENST00000615544.4:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | ENSP00000477968.1:p.[Ile165Ser;Leu171Ser;Leu176Met;Leu178Gln;... | |
| NM_001199954.1:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | NP_001186883.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Leu17... | |
| NM_001614.3:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | NP_001605.1:p.[Ile165Ser;Leu171Ser;Leu176Met;Leu178Gln;Asp179... | |
| NR_037688.1:n.[633T>G;650C>T;652C>G;665C>A;672T>A;674G>T] | ||
| NM_001199954.2:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | NP_001186883.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Leu17... | |
| NM_001614.4:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | NP_001605.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Leu178_A... | |
| NR_037688.2:n.[566T>G;583C>T;585C>G;598C>A;605T>A;607G>T] | ||
| NM_001614.5:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] MANE Select | NP_001605.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Leu178_A... | |
| NR_037688.3:n.[566T>G;583C>T;585C>G;598C>A;605T>A;607G>T] | ||
| NM_001199954.3:c.[494T>G;511C>T;513C>G;526C>A;533T>A;535G>T] | NP_001186883.1:p.[Ile165Ser;Leu171Phe;Leu171=;Leu176Met;Leu17... |