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.[81511465G>C;81511505G=;81511508T>G] , CM000679.2:g.[81511465G>C;81511505G=;81511508T>G] | GRCh38 |
| NC_000017.10:g.[79478491G>C;79478531G=;79478534T>G] , CM000679.1:g.[79478491G>C;79478531G=;79478534T>G] | GRCh37 |
| NC_000017.9:g.[77093086G>C;77093126G=;77093129T>G] | NCBI36 |
| NG_011433.1:g.[6294A>C;6297C=;6337C>G] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001614.5:c.[482A>C;485C=;525C>G] MANE Select | NP_001605.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000573283.7:c.[482A>C;485C=;525C>G] MANE Select | ENSP00000458435.1:p.[His161Pro;Thr162=;Ile175Met] |
| NM_001199954.1:c.[482A>C;485C=;525C>G] | NP_001186883.1:p.[His161Pro;Thr162=;Ile175Met] |
| NM_001199954.2:c.[482A>C;485C=;525C>G] | NP_001186883.1:p.[His161Pro;Thr162=;Ile175Met] |
| NM_001199954.3:c.[482A>C;485C=;525C>G] | NP_001186883.1:p.[His161Pro;Thr162=;Ile175Met] |
| NM_001614.3:c.[482A>C;485C=;525C>G] | NP_001605.1:p.[His161Pro;Thr162=;Ile175Met] |
| NM_001614.4:c.[482A>C;485C=;525C>G] | NP_001605.1:p.[His161Pro;Thr162=;Ile175Met] |
| NR_037688.1:n.[621A>C;624C=;664C>G] | |
| NR_037688.2:n.[554A>C;557C=;597C>G] | |
| NR_037688.3:n.[554A>C;557C=;597C>G] | |
| ENST00000331925.6:c.[482A>C;485C=;525C>G] | ENSP00000331514.2:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000570382.2:c.[482A>C;485C=;525C>G] | ENSP00000466346.2:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000571691.5:c.[455A>C;458C=;498C>G] | ENSP00000461407.1:p.[His152Pro;Thr153=;Ile166Met] |
| ENST00000571691.6:c.[410A>C;413C=;453C>G] | ENSP00000461407.2:p.[His137Pro;Thr138=;Ile151Met] |
| ENST00000571721.6:c.[482A>C;485C=;525C>G] | ENSP00000460660.2:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000572105.6:c.[523A>C;526C=;566C>G] | ENSP00000462823.1:p.[Thr175Pro;Arg176=;Ser189Cys] |
| ENST00000572105.7:c.[523A>C;526C=;566C>G] | ENSP00000462823.1:p.[Thr175Pro;Arg176=;Ser189Cys] |
| ENST00000573283.5:c.[482A>C;485C=;525C>G] | ENSP00000458435.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000574671.5:n.[341A>C;344C=;384C>G] | |
| ENST00000574671.6:n.[882A>C;885C=;925C>G] | |
| ENST00000575087.5:c.[482A>C;485C=;525C>G] | ENSP00000459124.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000575659.5:c.[482A>C;485C=;525C>G] | ENSP00000459119.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000575659.6:c.[482A>C;485C=;525C>G] | ENSP00000459119.2:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000575842.5:c.[482A>C;485C=;525C>G] | ENSP00000458162.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000575994.5:c.[482A>C;485C=;525C>G] | ENSP00000460464.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000575994.6:c.[482A>C;485C=;525C>G] | ENSP00000460464.2:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000576209.5:n.[367A>C;370C=;410C>G] | |
| ENST00000576214.2:n.[680A>C;683C=;723C>G] | |
| ENST00000576214.3:n.[783A>C;786C=;826C>G] | |
| ENST00000576544.5:c.[482A>C;485C=;525C>G] | ENSP00000461672.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000576544.6:c.[482A>C;485C=;525C>G] | ENSP00000461672.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000576917.5:n.[535A>C;538C=;578C>G] | |
| ENST00000615544.4:c.[482A>C;485C=;525C>G] | ENSP00000477968.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000615544.5:c.[482A>C;485C=;525C>G] | ENSP00000477968.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000644774.2:c.[455A>C;458C=;498C>G] | ENSP00000493648.2:p.[His152Pro;Thr153=;Ile166Met] |
| ENST00000679410.1:n.[606A>C;609C=;649C>G] | |
| ENST00000679480.1:c.[482A>C;485C=;525C>G] | ENSP00000506201.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000679535.1:n.[783A>C;786C=;826C>G] | |
| ENST00000679778.1:c.[482A>C;485C=;525C>G] | ENSP00000505235.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000680227.1:c.[482A>C;485C=;525C>G] | ENSP00000506253.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000680727.1:c.[482A>C;485C=;525C>G] | ENSP00000505193.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000681052.1:c.[482A>C;485C=;525C>G] | ENSP00000505060.1:p.[His161Pro;Thr162=;Ile175Met] |
| ENST00000681092.1:c.[*286A>C;*289C=;*329C>G] | ENSP00000506720.1:n.[*286A>C;*289C=;*329C>G] |
| ENST00000681842.1:c.[482A>C;485C=;525C>G] | ENSP00000506126.1:p.[His161Pro;Thr162=;Ile175Met] |