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.[81511544G>C;81511552C>A;81511557A>T;81511594C>G] , CM000679.2:g.[81511544G>C;81511552C>A;81511557A>T;81511594C>G] | GRCh38 |
| NC_000017.10:g.[79478570G>C;79478578C>A;79478583A>T;79478620C>G] , CM000679.1:g.[79478570G>C;79478578C>A;79478583A>T;79478620C>G] | GRCh37 |
| NC_000017.9:g.[77093165G>C;77093173C>A;77093178A>T;77093215C>G] | NCBI36 |
| NG_011433.1:g.[6208G>C;6245T>A;6250G>T;6258C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000466346.2:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000571691.6:c.[340-16G>C;361T>A;366G>T;374C>G] | ENSP00000461407.2:p.[Ser121Thr;Gly122=;Thr125Ser] | |
| ENST00000571721.6:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000460660.2:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000572105.7:c.[437G>C;474T>A;479G>T;487C>G] | ENSP00000462823.1:p.[Cys146Ser;Pro158=;Gly160Val;Leu163Val] | |
| ENST00000573283.7:c.[396G>C;433T>A;438G>T;446C>G] MANE Select | ENSP00000458435.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000574671.6:n.[796G>C;833T>A;838G>T;846C>G] | ||
| ENST00000575659.6:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000459119.2:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000575994.6:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000460464.2:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000576214.3:n.[697G>C;734T>A;739G>T;747C>G] | ||
| ENST00000576544.6:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000461672.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000615544.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000477968.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000644774.2:c.[369G>C;406T>A;411G>T;419C>G] | ENSP00000493648.2:p.[Met123Ile;Ser136Thr;Gly137=;Thr140Ser] | |
| ENST00000679410.1:n.[520G>C;557T>A;562G>T;570C>G] | ||
| ENST00000679480.1:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000506201.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000679535.1:n.[697G>C;734T>A;739G>T;747C>G] | ||
| ENST00000679778.1:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000505235.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000680227.1:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000506253.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000680727.1:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000505193.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000681052.1:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000505060.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000681092.1:c.[*200G>C;*237T>A;*242G>T;*250C>G] | ENSP00000506720.1:n.[*200G>C;*237T>A;*242G>T;*250C>G] | |
| ENST00000681842.1:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000506126.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000331925.6:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000331514.2:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000570382.1:c.[340-16G>C;361T>A;366G>T;374C>G] | ENSP00000466346.1:p.[Ser121Thr;Gly122=;Thr125Ser] | |
| ENST00000571691.5:c.[369G>C;406T>A;411G>T;419C>G] | ENSP00000461407.1:p.[Met123Ile;Ser136Thr;Gly137=;Thr140Ser] | |
| ENST00000571721.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000460660.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000572105.6:c.[437G>C;474T>A;479G>T;487C>G] | ENSP00000462823.1:p.[Cys146Ser;Pro158=;Gly160Val;Leu163Val] | |
| ENST00000573283.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000458435.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000574671.5:n.[255G>C;292T>A;297G>T;305C>G] | ||
| ENST00000575087.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000459124.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000575659.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000459119.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000575842.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000458162.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000575994.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000460464.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000576209.5:n.[281G>C;318T>A;323G>T;331C>G] | ||
| ENST00000576214.2:n.[594G>C;631T>A;636G>T;644C>G] | ||
| ENST00000576544.5:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000461672.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| ENST00000576917.5:n.[449G>C;486T>A;491G>T;499C>G] | ||
| ENST00000615544.4:c.[396G>C;433T>A;438G>T;446C>G] | ENSP00000477968.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| NM_001199954.1:c.[396G>C;433T>A;438G>T;446C>G] | NP_001186883.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| NM_001614.3:c.[396G>C;433T>A;438G>T;446C>G] | NP_001605.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| NR_037688.1:n.[535G>C;572T>A;577G>T;585C>G] | ||
| NM_001199954.2:c.[396G>C;433T>A;438G>T;446C>G] | NP_001186883.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| NM_001614.4:c.[396G>C;433T>A;438G>T;446C>G] | NP_001605.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| NR_037688.2:n.[468G>C;505T>A;510G>T;518C>G] | ||
| NM_001614.5:c.[396G>C;433T>A;438G>T;446C>G] MANE Select | NP_001605.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] | |
| NR_037688.3:n.[468G>C;505T>A;510G>T;518C>G] | ||
| NM_001199954.3:c.[396G>C;433T>A;438G>T;446C>G] | NP_001186883.1:p.[Met132Ile;Ser145Thr;Gly146=;Thr149Ser] |