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.[81511498G>C;81511506T>G;81511574A>T] , CM000679.2:g.[81511498G>C;81511506T>G;81511574A>T] | GRCh38 |
| NC_000017.10:g.[79478524G>C;79478532T>G;79478600A>T] , CM000679.1:g.[79478524G>C;79478532T>G;79478600A>T] | GRCh37 |
| NC_000017.9:g.[77093119G>C;77093127T>G;77093195A>T] | NCBI36 |
| NG_011433.1:g.[6228T>A;6296A>C;6304C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[416T>A;484A>C;492C>G] | ENSP00000466346.2:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000571691.6:c.[344T>A;412A>C;420C>G] | ENSP00000461407.2:p.[Val115Glu;Thr138Pro;Pro140=] | |
| ENST00000571721.6:c.[416T>A;484A>C;492C>G] | ENSP00000460660.2:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000572105.7:c.[457T>A;525A>C;533C>G] | ENSP00000462823.1:p.[Cys153Ser;Thr175=;Pro178Arg] | |
| ENST00000573283.7:c.[416T>A;484A>C;492C>G] MANE Select | ENSP00000458435.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000574671.6:n.[816T>A;884A>C;892C>G] | ||
| ENST00000575659.6:c.[416T>A;484A>C;492C>G] | ENSP00000459119.2:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000575994.6:c.[416T>A;484A>C;492C>G] | ENSP00000460464.2:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000576214.3:n.[717T>A;785A>C;793C>G] | ||
| ENST00000576544.6:c.[416T>A;484A>C;492C>G] | ENSP00000461672.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000615544.5:c.[416T>A;484A>C;492C>G] | ENSP00000477968.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000644774.2:c.[389T>A;457A>C;465C>G] | ENSP00000493648.2:p.[Val130Glu;Thr153Pro;Pro155=] | |
| ENST00000679410.1:n.[540T>A;608A>C;616C>G] | ||
| ENST00000679480.1:c.[416T>A;484A>C;492C>G] | ENSP00000506201.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000679535.1:n.[717T>A;785A>C;793C>G] | ||
| ENST00000679778.1:c.[416T>A;484A>C;492C>G] | ENSP00000505235.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000680227.1:c.[416T>A;484A>C;492C>G] | ENSP00000506253.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000680727.1:c.[416T>A;484A>C;492C>G] | ENSP00000505193.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000681052.1:c.[416T>A;484A>C;492C>G] | ENSP00000505060.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000681092.1:c.[*220T>A;*288A>C;*296C>G] | ENSP00000506720.1:n.[*220T>A;*288A>C;*296C>G] | |
| ENST00000681842.1:c.[416T>A;484A>C;492C>G] | ENSP00000506126.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000331925.6:c.[416T>A;484A>C;492C>G] | ENSP00000331514.2:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000571691.5:c.[389T>A;457A>C;465C>G] | ENSP00000461407.1:p.[Val130Glu;Thr153Pro;Pro155=] | |
| ENST00000571721.5:c.[416T>A;484A>C;492C>G] | ENSP00000460660.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000572105.6:c.[457T>A;525A>C;533C>G] | ENSP00000462823.1:p.[Cys153Ser;Thr175=;Pro178Arg] | |
| ENST00000573283.5:c.[416T>A;484A>C;492C>G] | ENSP00000458435.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000574671.5:n.[275T>A;343A>C;351C>G] | ||
| ENST00000575087.5:c.[416T>A;484A>C;492C>G] | ENSP00000459124.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000575659.5:c.[416T>A;484A>C;492C>G] | ENSP00000459119.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000575842.5:c.[416T>A;484A>C;492C>G] | ENSP00000458162.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000575994.5:c.[416T>A;484A>C;492C>G] | ENSP00000460464.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000576209.5:n.[301T>A;369A>C;377C>G] | ||
| ENST00000576214.2:n.[614T>A;682A>C;690C>G] | ||
| ENST00000576544.5:c.[416T>A;484A>C;492C>G] | ENSP00000461672.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| ENST00000576917.5:n.[469T>A;537A>C;545C>G] | ||
| ENST00000615544.4:c.[416T>A;484A>C;492C>G] | ENSP00000477968.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| NM_001199954.1:c.[416T>A;484A>C;492C>G] | NP_001186883.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| NM_001614.3:c.[416T>A;484A>C;492C>G] | NP_001605.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| NR_037688.1:n.[555T>A;623A>C;631C>G] | ||
| NM_001199954.2:c.[416T>A;484A>C;492C>G] | NP_001186883.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| NM_001614.4:c.[416T>A;484A>C;492C>G] | NP_001605.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| NR_037688.2:n.[488T>A;556A>C;564C>G] | ||
| NM_001614.5:c.[416T>A;484A>C;492C>G] MANE Select | NP_001605.1:p.[Val139Glu;Thr162Pro;Pro164=] | |
| NR_037688.3:n.[488T>A;556A>C;564C>G] | ||
| NM_001199954.3:c.[416T>A;484A>C;492C>G] | NP_001186883.1:p.[Val139Glu;Thr162Pro;Pro164=] |