This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511463A>T;81511467T>C;81511477G>T;81511479G>A;81511488C>A] , CM000679.2:g.[81511436A>G;81511463A>T;81511467T>C;81511477G>T;81511479G>A;81511488C>A] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478489A>T;79478493T>C;79478503G>T;79478505G>A;79478514C>A] , CM000679.1:g.[79478462A>G;79478489A>T;79478493T>C;79478503G>T;79478505G>A;79478514C>A] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093084A>T;77093088T>C;77093098G>T;77093100G>A;77093109C>A] | NCBI36 |
| NG_011433.1:g.[6314G>T;6323C>T;6325C>A;6335A>G;6339T>A;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000466346.2:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000571691.6:c.[430G>T;439C>T;441C>A;451A>G;455T>A;482T>C] | ENSP00000461407.2:p.[Gly144Cys;Leu147Phe;Leu147=;Ile151Val;Le... | |
| ENST00000571721.6:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000460660.2:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000572105.7:c.[543G>T;552C>T;554C>A;564A>G;568T>A;595T>C] | ENSP00000462823.1:p.[Arg181Ser;Pro184=;Ser185Tyr;Pro188=;Cys1... | |
| ENST00000573283.7:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] MANE Select | ENSP00000458435.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000574671.6:n.[902G>T;911C>T;913C>A;923A>G;927T>A;954T>C] | ||
| ENST00000575659.6:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000459119.2:p.[Gly168Cys;Leu171=;Ile175Val;Leu176Gln;Le... | |
| ENST00000575994.6:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000460464.2:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000576214.3:n.[803G>T;812C>T;814C>A;824A>G;828T>A;855T>C] | ||
| ENST00000576544.6:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000461672.1:p.[Gly168Cys;Leu171Ser;Ile175Val;Leu176Gln;... | |
| ENST00000615544.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000477968.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000644774.2:c.[475G>T;484C>T;486C>A;496A>G;500T>A;527T>C] | ENSP00000493648.2:p.[Gly159Cys;Leu162Phe;Leu162=;Ile166Val;Le... | |
| ENST00000679410.1:n.[626G>T;635C>T;637C>A;647A>G;651T>A;678T>C] | ||
| ENST00000679480.1:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000506201.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000679535.1:n.[803G>T;812C>T;814C>A;824A>G;828T>A;855T>C] | ||
| ENST00000679778.1:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000505235.1:p.[Gly168Cys;Leu171Ter] | |
| ENST00000680227.1:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000506253.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000680727.1:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000505193.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000681052.1:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000505060.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000681092.1:c.[*306G>T;*315C>T;*317C>A;*327A>G;*331T>A;*358T>C] | ENSP00000506720.1:n.[*306G>T;*315C>T;*317C>A;*327A>G;*331T>A;... | |
| ENST00000681842.1:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000506126.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000331925.6:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000331514.2:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000571691.5:c.[475G>T;484C>T;486C>A;496A>G;500T>A;527T>C] | ENSP00000461407.1:p.[Gly159Cys;Leu162Phe;Leu162=;Ile166Val;Le... | |
| ENST00000572105.6:c.[543G>T;552C>T;554C>A;564A>G;568T>A;595T>C] | ENSP00000462823.1:p.[Arg181Ser;Pro184=;Ser185Tyr;Pro188=;Cys1... | |
| ENST00000573283.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000458435.1:p.[Gly168Cys;Leu171Ter] | |
| ENST00000574671.5:n.[361G>T;370C>T;372C>A;382A>G;386T>A;413T>C] | ||
| ENST00000575087.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000459124.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000575659.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000459119.1:p.[Gly168Cys;Leu171=;Ile175Val;Leu176Gln;Le... | |
| ENST00000575842.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000458162.1:p.[Gly168Cys;Leu171Ser;Ile175Val;Leu176Gln;... | |
| ENST00000575994.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000460464.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Le... | |
| ENST00000576209.5:n.[387G>T;396C>T;398C>A;408A>G;412T>A;439T>C] | ||
| ENST00000576214.2:n.[700G>T;709C>T;711C>A;721A>G;725T>A;752T>C] | ||
| ENST00000576544.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000461672.1:p.[Gly168Cys;Leu171Ser;Ile175Val;Leu176Gln;... | |
| ENST00000576917.5:n.[555G>T;564C>T;566C>A;576A>G;580T>A;607T>C] | ||
| ENST00000615544.4:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | ENSP00000477968.1:p.[Gly168Cys;Leu171Ser;Ile175Val;Leu176Gln;... | |
| NM_001199954.1:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | NP_001186883.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Leu17... | |
| NM_001614.3:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | NP_001605.1:p.[Gly168Cys;Leu171Ser;Ile175Val;Leu176Gln;Leu185... | |
| NR_037688.1:n.[641G>T;650C>T;652C>A;662A>G;666T>A;693T>C] | ||
| NM_001199954.2:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | NP_001186883.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Leu17... | |
| NM_001614.4:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | NP_001605.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Leu176Gl... | |
| NR_037688.2:n.[574G>T;583C>T;585C>A;595A>G;599T>A;626T>C] | ||
| NM_001614.5:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] MANE Select | NP_001605.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Leu176Gl... | |
| NR_037688.3:n.[574G>T;583C>T;585C>A;595A>G;599T>A;626T>C] | ||
| NM_001199954.3:c.[502G>T;511C>T;513C>A;523A>G;527T>A;554T>C] | NP_001186883.1:p.[Gly168Cys;Leu171Phe;Leu171=;Ile175Val;Leu17... |