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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511511G>C;81511547G>C;81511555A>C;81511557A>C;81511589A>T] , CM000679.2:g.[81511511G>C;81511547G>C;81511555A>C;81511557A>C;81511589A>T] | GRCh38 |
| NC_000017.10:g.[79478537G>C;79478573G>C;79478581A>C;79478583A>C;79478615A>T] , CM000679.1:g.[79478537G>C;79478573G>C;79478581A>C;79478583A>C;79478615A>T] | GRCh37 |
| NC_000017.9:g.[77093132G>C;77093168G>C;77093176A>C;77093178A>C;77093210A>T] | NCBI36 |
| NG_011433.1:g.[6213T>A;6245T>G;6247T>G;6255C>G;6291C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000466346.2:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000571691.6:c.[340-11T>A;361T>G;363T>G;371C>G;407C>G] | ENSP00000461407.2:p.[Ser121Ala;Ser121=;Thr124Ser;Thr136Ser] | |
| ENST00000571721.6:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000460660.2:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000572105.7:c.[442T>A;474T>G;476T>G;484C>G;520C>G] | ENSP00000462823.1:p.[Trp148Arg;Pro158=;Leu159Arg;Pro162Ala;Pr... | |
| ENST00000573283.7:c.[401T>A;433T>G;435T>G;443C>G;479C>G] MANE Select | ENSP00000458435.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000574671.6:n.[801T>A;833T>G;835T>G;843C>G;879C>G] | ||
| ENST00000575659.6:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000459119.2:p.[Val134Glu;Ser145Glu;Thr148Ser;Thr160Ser]... | |
| ENST00000575994.6:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000460464.2:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000576214.3:n.[702T>A;734T>G;736T>G;744C>G;780C>G] | ||
| ENST00000576544.6:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000461672.1:p.[Val134Glu;Ser145Val;Thr148Ser;Thr160Ser]... | |
| ENST00000615544.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000477968.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000644774.2:c.[374T>A;406T>G;408T>G;416C>G;452C>G] | ENSP00000493648.2:p.[Val125Glu;Ser136Ala;Ser136=;Thr139Ser;Th... | |
| ENST00000679410.1:n.[525T>A;557T>G;559T>G;567C>G;603C>G] | ||
| ENST00000679480.1:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000506201.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000679535.1:n.[702T>A;734T>G;736T>G;744C>G;780C>G] | ||
| ENST00000679778.1:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000505235.1:p.[Val134Glu;Ser145Ala;Thr148Ser;Thr160Ser]... | |
| ENST00000680227.1:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000506253.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000680727.1:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000505193.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000681052.1:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000505060.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000681092.1:c.[*205T>A;*237T>G;*239T>G;*247C>G;*283C>G] | ENSP00000506720.1:n.[*205T>A;*237T>G;*239T>G;*247C>G;*283C>G]... | |
| ENST00000681842.1:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000506126.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000331925.6:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000331514.2:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000571691.5:c.[374T>A;406T>G;408T>G;416C>G;452C>G] | ENSP00000461407.1:p.[Val125Glu;Ser136Ala;Ser136=;Thr139Ser;Th... | |
| ENST00000571721.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000460660.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000572105.6:c.[442T>A;474T>G;476T>G;484C>G;520C>G] | ENSP00000462823.1:p.[Trp148Arg;Pro158=;Leu159Arg;Pro162Ala;Pr... | |
| ENST00000573283.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000458435.1:p.[Val134Glu;Ser145Val;Thr148Ser;Thr160Ser]... | |
| ENST00000574671.5:n.[260T>A;292T>G;294T>G;302C>G;338C>G] | ||
| ENST00000575087.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000459124.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000575659.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000459119.1:p.[Val134Glu;Ser145Glu;Thr148Ser;Thr160Ser]... | |
| ENST00000575842.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000458162.1:p.[Val134Glu;Ser145Ala;Thr148Ser;Thr160Ser]... | |
| ENST00000575994.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000460464.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Th... | |
| ENST00000576209.5:n.[286T>A;318T>G;320T>G;328C>G;364C>G] | ||
| ENST00000576214.2:n.[599T>A;631T>G;633T>G;641C>G;677C>G] | ||
| ENST00000576544.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000461672.1:p.[Val134Glu;Ser145Val;Thr148Ser;Thr160Ser]... | |
| ENST00000576917.5:n.[454T>A;486T>G;488T>G;496C>G;532C>G] | ||
| ENST00000615544.4:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | ENSP00000477968.1:p.[Val134Glu;Ser145Val;Thr148Ser;Thr160Ser]... | |
| NM_001199954.1:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | NP_001186883.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Thr16... | |
| NM_001614.3:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | NP_001605.1:p.[Val134Glu;Ser145Val;Thr148Ser;Thr160Ser] | |
| NR_037688.1:n.[540T>A;572T>G;574T>G;582C>G;618C>G] | ||
| NM_001199954.2:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | NP_001186883.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Thr16... | |
| NM_001614.4:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | NP_001605.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Thr160Se... | |
| NR_037688.2:n.[473T>A;505T>G;507T>G;515C>G;551C>G] | ||
| NM_001614.5:c.[401T>A;433T>G;435T>G;443C>G;479C>G] MANE Select | NP_001605.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Thr160Se... | |
| NR_037688.3:n.[473T>A;505T>G;507T>G;515C>G;551C>G] | ||
| NM_001199954.3:c.[401T>A;433T>G;435T>G;443C>G;479C>G] | NP_001186883.1:p.[Val134Glu;Ser145Ala;Ser145=;Thr148Ser;Thr16... |