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.[81511511G>C;81511525A>T;81511539T>A;81511589A>G] , CM000679.2:g.[81511511G>C;81511525A>T;81511539T>A;81511589A>G] | GRCh38 |
| NC_000017.10:g.[79478537G>C;79478551A>T;79478565T>A;79478615A>G] , CM000679.1:g.[79478537G>C;79478551A>T;79478565T>A;79478615A>G] | GRCh37 |
| NC_000017.9:g.[77093132G>C;77093146A>T;77093160T>A;77093210A>G] | NCBI36 |
| NG_011433.1:g.[6213T>C;6263A>T;6277T>A;6291C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000466346.2:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000571691.6:c.[340-11T>C;379A>T;393T>A;407C>G] | ENSP00000461407.2:p.[Ile127Phe;Ser131=;Thr136Ser] | |
| ENST00000571721.6:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000460660.2:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000572105.7:c.[442T>C;492A>T;506T>A;520C>G] | ENSP00000462823.1:p.[Trp148Arg;Ala164=;Leu169Gln;Pro174Ala] | |
| ENST00000573283.7:c.[401T>C;451A>T;465T>A;479C>G] MANE Select | ENSP00000458435.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000574671.6:n.[801T>C;851A>T;865T>A;879C>G] | ||
| ENST00000575659.6:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000459119.2:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000575994.6:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000460464.2:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000576214.3:n.[702T>C;752A>T;766T>A;780C>G] | ||
| ENST00000576544.6:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000461672.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000615544.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000477968.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000644774.2:c.[374T>C;424A>T;438T>A;452C>G] | ENSP00000493648.2:p.[Val125Ala;Ile142Phe;Ser146=;Thr151Ser] | |
| ENST00000679410.1:n.[525T>C;575A>T;589T>A;603C>G] | ||
| ENST00000679480.1:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000506201.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000679535.1:n.[702T>C;752A>T;766T>A;780C>G] | ||
| ENST00000679778.1:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000505235.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000680227.1:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000506253.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000680727.1:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000505193.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000681052.1:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000505060.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000681092.1:c.[*205T>C;*255A>T;*269T>A;*283C>G] | ENSP00000506720.1:n.[*205T>C;*255A>T;*269T>A;*283C>G] | |
| ENST00000681842.1:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000506126.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000331925.6:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000331514.2:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000571691.5:c.[374T>C;424A>T;438T>A;452C>G] | ENSP00000461407.1:p.[Val125Ala;Ile142Phe;Ser146=;Thr151Ser] | |
| ENST00000571721.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000460660.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000572105.6:c.[442T>C;492A>T;506T>A;520C>G] | ENSP00000462823.1:p.[Trp148Arg;Ala164=;Leu169Gln;Pro174Ala] | |
| ENST00000573283.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000458435.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000574671.5:n.[260T>C;310A>T;324T>A;338C>G] | ||
| ENST00000575087.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000459124.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000575659.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000459119.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000575842.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000458162.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000575994.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000460464.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000576209.5:n.[286T>C;336A>T;350T>A;364C>G] | ||
| ENST00000576214.2:n.[599T>C;649A>T;663T>A;677C>G] | ||
| ENST00000576544.5:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000461672.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| ENST00000576917.5:n.[454T>C;504A>T;518T>A;532C>G] | ||
| ENST00000615544.4:c.[401T>C;451A>T;465T>A;479C>G] | ENSP00000477968.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| NM_001199954.1:c.[401T>C;451A>T;465T>A;479C>G] | NP_001186883.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| NM_001614.3:c.[401T>C;451A>T;465T>A;479C>G] | NP_001605.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| NR_037688.1:n.[540T>C;590A>T;604T>A;618C>G] | ||
| NM_001199954.2:c.[401T>C;451A>T;465T>A;479C>G] | NP_001186883.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| NM_001614.4:c.[401T>C;451A>T;465T>A;479C>G] | NP_001605.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| NR_037688.2:n.[473T>C;523A>T;537T>A;551C>G] | ||
| NM_001614.5:c.[401T>C;451A>T;465T>A;479C>G] MANE Select | NP_001605.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] | |
| NR_037688.3:n.[473T>C;523A>T;537T>A;551C>G] | ||
| NM_001199954.3:c.[401T>C;451A>T;465T>A;479C>G] | NP_001186883.1:p.[Val134Ala;Ile151Phe;Ser155=;Thr160Ser] |