This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511477G>C;81511491C>T;81511520T>C] , CM000679.2:g.[81511477G>C;81511491C>T;81511520T>C] | GRCh38 |
| NC_000017.10:g.[79478503G>C;79478517C>T;79478546T>C] , CM000679.1:g.[79478503G>C;79478517C>T;79478546T>C] | GRCh37 |
| NC_000017.9:g.[77093098G>C;77093112C>T;77093141T>C] | NCBI36 |
| NG_011433.1:g.[6282A>G;6311G>A;6325C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[470A>G;499G>A;513C>G] | ENSP00000466346.2:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000571691.6:c.[398A>G;427G>A;441C>G] | ENSP00000461407.2:p.[Asp133Gly;Glu143Lys;Leu147=] | |
| ENST00000571721.6:c.[470A>G;499G>A;513C>G] | ENSP00000460660.2:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000572105.7:c.[511A>G;540G>A;554C>G] | ENSP00000462823.1:p.[Thr171Ala;Thr180=;Ser185Cys] | |
| ENST00000573283.7:c.[470A>G;499G>A;513C>G] MANE Select | ENSP00000458435.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000574671.6:n.[870A>G;899G>A;913C>G] | ||
| ENST00000575659.6:c.[470A>G;499G>A;513C>G] | ENSP00000459119.2:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000575994.6:c.[470A>G;499G>A;513C>G] | ENSP00000460464.2:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000576214.3:n.[771A>G;800G>A;814C>G] | ||
| ENST00000576544.6:c.[470A>G;499G>A;513C>G] | ENSP00000461672.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000615544.5:c.[470A>G;499G>A;513C>G] | ENSP00000477968.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000644774.2:c.[443A>G;472G>A;486C>G] | ENSP00000493648.2:p.[Asp148Gly;Glu158Lys;Leu162=] | |
| ENST00000679410.1:n.[594A>G;623G>A;637C>G] | ||
| ENST00000679480.1:c.[470A>G;499G>A;513C>G] | ENSP00000506201.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000679535.1:n.[771A>G;800G>A;814C>G] | ||
| ENST00000679778.1:c.[470A>G;499G>A;513C>G] | ENSP00000505235.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000680227.1:c.[470A>G;499G>A;513C>G] | ENSP00000506253.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000680727.1:c.[470A>G;499G>A;513C>G] | ENSP00000505193.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000681052.1:c.[470A>G;499G>A;513C>G] | ENSP00000505060.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000681092.1:c.[*274A>G;*303G>A;*317C>G] | ENSP00000506720.1:n.[*274A>G;*303G>A;*317C>G] | |
| ENST00000681842.1:c.[470A>G;499G>A;513C>G] | ENSP00000506126.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000331925.6:c.[470A>G;499G>A;513C>G] | ENSP00000331514.2:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000571691.5:c.[443A>G;472G>A;486C>G] | ENSP00000461407.1:p.[Asp148Gly;Glu158Lys;Leu162=] | |
| ENST00000572105.6:c.[511A>G;540G>A;554C>G] | ENSP00000462823.1:p.[Thr171Ala;Thr180=;Ser185Cys] | |
| ENST00000573283.5:c.[470A>G;499G>A;513C>G] | ENSP00000458435.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000574671.5:n.[329A>G;358G>A;372C>G] | ||
| ENST00000575087.5:c.[470A>G;499G>A;513C>G] | ENSP00000459124.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000575659.5:c.[470A>G;499G>A;513C>G] | ENSP00000459119.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000575842.5:c.[470A>G;499G>A;513C>G] | ENSP00000458162.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000575994.5:c.[470A>G;499G>A;513C>G] | ENSP00000460464.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000576209.5:n.[355A>G;384G>A;398C>G] | ||
| ENST00000576214.2:n.[668A>G;697G>A;711C>G] | ||
| ENST00000576544.5:c.[470A>G;499G>A;513C>G] | ENSP00000461672.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| ENST00000576917.5:n.[523A>G;552G>A;566C>G] | ||
| ENST00000615544.4:c.[470A>G;499G>A;513C>G] | ENSP00000477968.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| NM_001199954.1:c.[470A>G;499G>A;513C>G] | NP_001186883.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| NM_001614.3:c.[470A>G;499G>A;513C>G] | NP_001605.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| NR_037688.1:n.[609A>G;638G>A;652C>G] | ||
| NM_001199954.2:c.[470A>G;499G>A;513C>G] | NP_001186883.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| NM_001614.4:c.[470A>G;499G>A;513C>G] | NP_001605.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| NR_037688.2:n.[542A>G;571G>A;585C>G] | ||
| NM_001614.5:c.[470A>G;499G>A;513C>G] MANE Select | NP_001605.1:p.[Asp157Gly;Glu167Lys;Leu171=] | |
| NR_037688.3:n.[542A>G;571G>A;585C>G] | ||
| NM_001199954.3:c.[470A>G;499G>A;513C>G] | NP_001186883.1:p.[Asp157Gly;Glu167Lys;Leu171=] |