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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511539T=;81511557A>G;81511582G>A;81511589A>G] , CM000679.2:g.[81511537A>C;81511539T=;81511557A>G;81511582G>A;81511589A>G] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478565T=;79478583A>G;79478608G>A;79478615A>G] , CM000679.1:g.[79478563A>C;79478565T=;79478583A>G;79478608G>A;79478615A>G] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093160T=;77093178A>G;77093203G>A;77093210A>G] | NCBI36 |
| NG_011433.1:g.[6213T>C;6220C>T;6245T>C;6263A=;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000466346.2:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000571691.6:c.[340-11T>C;340-4C>T;361T>C;379A=;381T>G] | ENSP00000461407.2:p.[Ser121Pro;Ile127=;Ile127Met] | |
| ENST00000571721.6:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000460660.2:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000572105.7:c.[442T>C;449C>T;474T>C;492A=;494T>G] | ENSP00000462823.1:p.[Trp148Arg;Ser150Phe;Pro158=;Ala164=;Leu1... | |
| ENST00000573283.7:c.[401T>C;408C>T;433T>C;451A=;453T>G] MANE Select | ENSP00000458435.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000574671.6:n.[801T>C;808C>T;833T>C;851A=;853T>G] | ||
| ENST00000575659.6:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000459119.2:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Arg] | |
| ENST00000575994.6:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000460464.2:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000576214.3:n.[702T>C;709C>T;734T>C;752A=;754T>G] | ||
| ENST00000576544.6:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000461672.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Thr] | |
| ENST00000615544.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000477968.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000644774.2:c.[374T>C;381C>T;406T>C;424A=;426T>G] | ENSP00000493648.2:p.[Val125Ala;Ile127=;Ser136Pro;Ile142=;Ile1... | |
| ENST00000679410.1:n.[525T>C;532C>T;557T>C;575A=;577T>G] | ||
| ENST00000679480.1:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000506201.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000679535.1:n.[702T>C;709C>T;734T>C;752A=;754T>G] | ||
| ENST00000679778.1:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000505235.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Thr] | |
| ENST00000680227.1:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000506253.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000680727.1:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000505193.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000681052.1:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000505060.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000681092.1:c.[*205T>C;*212C>T;*237T>C;*255A=;*257T>G] | ENSP00000506720.1:n.[*205T>C;*212C>T;*237T>C;*255A=;*257T>G] | |
| ENST00000681842.1:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000506126.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000331925.6:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000331514.2:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000570382.1:c.[340-11T>C;340-4C>T;361T>C;379A=;381T>G] | ENSP00000466346.1:p.[Ser121Pro;Ile127=;Ile127Met] | |
| ENST00000571691.5:c.[374T>C;381C>T;406T>C;424A=;426T>G] | ENSP00000461407.1:p.[Val125Ala;Ile127=;Ser136Pro;Ile142=;Ile1... | |
| ENST00000571721.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000460660.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000572105.6:c.[442T>C;449C>T;474T>C;492A=;494T>G] | ENSP00000462823.1:p.[Trp148Arg;Ser150Phe;Pro158=;Ala164=;Leu1... | |
| ENST00000573283.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000458435.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Arg] | |
| ENST00000574671.5:n.[260T>C;267C>T;292T>C;310A=;312T>G] | ||
| ENST00000575087.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000459124.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000575659.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000459119.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Arg] | |
| ENST00000575842.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000458162.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Arg] | |
| ENST00000575994.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000460464.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile1... | |
| ENST00000576209.5:n.[286T>C;293C>T;318T>C;336A=;338T>G] | ||
| ENST00000576214.2:n.[599T>C;606C>T;631T>C;649A=;651T>G] | ||
| ENST00000576544.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000461672.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Thr] | |
| ENST00000576917.5:n.[454T>C;461C>T;486T>C;504A=;506T>G] | ||
| ENST00000615544.4:c.[401T>C;408C>T;433T>C;451A=;453T>G] | ENSP00000477968.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Thr] | |
| NM_001199954.1:c.[401T>C;408C>T;433T>C;451A=;453T>G] | NP_001186883.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile151M... | |
| NM_001614.3:c.[401T>C;408C>T;433T>C;451A=;453T>G] | NP_001605.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151Thr] | |
| NR_037688.1:n.[540T>C;547C>T;572T>C;590A=;592T>G] | ||
| NM_001199954.2:c.[401T>C;408C>T;433T>C;451A=;453T>G] | NP_001186883.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile151M... | |
| NM_001614.4:c.[401T>C;408C>T;433T>C;451A=;453T>G] | NP_001605.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile151Met]... | |
| NR_037688.2:n.[473T>C;480C>T;505T>C;523A=;525T>G] | ||
| NM_001614.5:c.[401T>C;408C>T;433T>C;451A=;453T>G] MANE Select | NP_001605.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile151Met]... | |
| NR_037688.3:n.[473T>C;480C>T;505T>C;523A=;525T>G] | ||
| NM_001199954.3:c.[401T>C;408C>T;433T>C;451A=;453T>G] | NP_001186883.1:p.[Val134Ala;Ile136=;Ser145Pro;Ile151=;Ile151M... |