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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511502A>T;81511512T>A;81511565A>C] , CM000679.2:g.[81511502A>T;81511512T>A;81511565A>C] | GRCh38 |
| NC_000017.10:g.[79478528A>T;79478538T>A;79478591A>C] , CM000679.1:g.[79478528A>T;79478538T>A;79478591A>C] | GRCh37 |
| NC_000017.9:g.[77093123A>T;77093133T>A;77093186A>C] | NCBI36 |
| NG_011433.1:g.[6237T>G;6290A>T;6300T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[425T>G;478A>T;488T>A] | ENSP00000466346.2:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000571691.6:c.[353T>G;406A>T;416T>A] | ENSP00000461407.2:p.[Leu118Arg;Thr136Ser;Val139Glu] | |
| ENST00000571721.6:c.[425T>G;478A>T;488T>A] | ENSP00000460660.2:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000572105.7:c.[466T>G;519A>T;529T>A] | ENSP00000462823.1:p.[Ser156Ala;Ser173=;Cys177Ser] | |
| ENST00000573283.7:c.[425T>G;478A>T;488T>A] MANE Select | ENSP00000458435.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000574671.6:n.[825T>G;878A>T;888T>A] | ||
| ENST00000575659.6:c.[425T>G;478A>T;488T>A] | ENSP00000459119.2:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000575994.6:c.[425T>G;478A>T;488T>A] | ENSP00000460464.2:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000576214.3:n.[726T>G;779A>T;789T>A] | ||
| ENST00000576544.6:c.[425T>G;478A>T;488T>A] | ENSP00000461672.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000615544.5:c.[425T>G;478A>T;488T>A] | ENSP00000477968.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000644774.2:c.[398T>G;451A>T;461T>A] | ENSP00000493648.2:p.[Leu133Arg;Thr151Ser;Val154Glu] | |
| ENST00000679410.1:n.[549T>G;602A>T;612T>A] | ||
| ENST00000679480.1:c.[425T>G;478A>T;488T>A] | ENSP00000506201.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000679535.1:n.[726T>G;779A>T;789T>A] | ||
| ENST00000679778.1:c.[425T>G;478A>T;488T>A] | ENSP00000505235.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000680227.1:c.[425T>G;478A>T;488T>A] | ENSP00000506253.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000680727.1:c.[425T>G;478A>T;488T>A] | ENSP00000505193.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000681052.1:c.[425T>G;478A>T;488T>A] | ENSP00000505060.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000681092.1:c.[*229T>G;*282A>T;*292T>A] | ENSP00000506720.1:n.[*229T>G;*282A>T;*292T>A] | |
| ENST00000681842.1:c.[425T>G;478A>T;488T>A] | ENSP00000506126.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000331925.6:c.[425T>G;478A>T;488T>A] | ENSP00000331514.2:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000571691.5:c.[398T>G;451A>T;461T>A] | ENSP00000461407.1:p.[Leu133Arg;Thr151Ser;Val154Glu] | |
| ENST00000571721.5:c.[425T>G;478A>T;488T>A] | ENSP00000460660.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000572105.6:c.[466T>G;519A>T;529T>A] | ENSP00000462823.1:p.[Ser156Ala;Ser173=;Cys177Ser] | |
| ENST00000573283.5:c.[425T>G;478A>T;488T>A] | ENSP00000458435.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000574671.5:n.[284T>G;337A>T;347T>A] | ||
| ENST00000575087.5:c.[425T>G;478A>T;488T>A] | ENSP00000459124.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000575659.5:c.[425T>G;478A>T;488T>A] | ENSP00000459119.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000575842.5:c.[425T>G;478A>T;488T>A] | ENSP00000458162.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000575994.5:c.[425T>G;478A>T;488T>A] | ENSP00000460464.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000576209.5:n.[310T>G;363A>T;373T>A] | ||
| ENST00000576214.2:n.[623T>G;676A>T;686T>A] | ||
| ENST00000576544.5:c.[425T>G;478A>T;488T>A] | ENSP00000461672.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| ENST00000576917.5:n.[478T>G;531A>T;541T>A] | ||
| ENST00000615544.4:c.[425T>G;478A>T;488T>A] | ENSP00000477968.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| NM_001199954.1:c.[425T>G;478A>T;488T>A] | NP_001186883.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| NM_001614.3:c.[425T>G;478A>T;488T>A] | NP_001605.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| NR_037688.1:n.[564T>G;617A>T;627T>A] | ||
| NM_001199954.2:c.[425T>G;478A>T;488T>A] | NP_001186883.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| NM_001614.4:c.[425T>G;478A>T;488T>A] | NP_001605.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| NR_037688.2:n.[497T>G;550A>T;560T>A] | ||
| NM_001614.5:c.[425T>G;478A>T;488T>A] MANE Select | NP_001605.1:p.[Leu142Arg;Thr160Ser;Val163Glu] | |
| NR_037688.3:n.[497T>G;550A>T;560T>A] | ||
| NM_001199954.3:c.[425T>G;478A>T;488T>A] | NP_001186883.1:p.[Leu142Arg;Thr160Ser;Val163Glu] |