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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511574A>T;81511582G>C;81511597G>T;81511602G>A;81511607T>G] , CM000679.2:g.[81511537A>C;81511574A>T;81511582G>C;81511597G>T;81511602G>A;81511607T>G] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478600A>T;79478608G>C;79478623G>T;79478628G>A;79478633T>G] , CM000679.1:g.[79478563A>C;79478600A>T;79478608G>C;79478623G>T;79478628G>A;79478633T>G] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093195A>T;77093203G>C;77093218G>T;77093223G>A;77093228T>G] | NCBI36 |
| NG_011433.1:g.[6195A>C;6200C>T;6205C>A;6220C>G;6228T>A;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000466346.2:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000571691.6:c.[340-29A>C;340-24C>T;340-19C>A;340-4C>G;344T>A;381T>G] | ENSP00000461407.2:p.[Val115Glu;Ile127Met] | |
| ENST00000571721.6:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000460660.2:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000572105.7:c.[424A>C;429C>T;434C>A;449C>G;457T>A;494T>G] | ENSP00000462823.1:p.[Thr142Pro;Pro143=;Pro145Gln;Ser150Cys;Cy... | |
| ENST00000573283.7:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] MANE Select | ENSP00000458435.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000574671.6:n.[783A>C;788C>T;793C>A;808C>G;816T>A;853T>G] | ||
| ENST00000575659.6:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000459119.2:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000575994.6:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000460464.2:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000576214.3:n.[684A>C;689C>T;694C>A;709C>G;717T>A;754T>G] | ||
| ENST00000576544.6:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000461672.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000615544.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000477968.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000644774.2:c.[356A>C;361C>T;366C>A;381C>G;389T>A;426T>G] | ENSP00000493648.2:p.[Asn119Thr;Pro121Ser;Ala122=;Ile127Met;Va... | |
| ENST00000679410.1:n.[507A>C;512C>T;517C>A;532C>G;540T>A;577T>G] | ||
| ENST00000679480.1:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000506201.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000679535.1:n.[684A>C;689C>T;694C>A;709C>G;717T>A;754T>G] | ||
| ENST00000679778.1:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000505235.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000680227.1:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000506253.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000680727.1:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000505193.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000681052.1:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000505060.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000681092.1:c.[*187A>C;*192C>T;*197C>A;*212C>G;*220T>A;*257T>G] | ENSP00000506720.1:n.[*187A>C;*192C>T;*197C>A;*212C>G;*220T>A;... | |
| ENST00000681842.1:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000506126.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000331925.6:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000331514.2:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000570382.1:c.[340-29A>C;340-24C>T;340-19C>A;340-4C>G;344T>A;381T>G] | ENSP00000466346.1:p.[Val115Glu;Ile127Met] | |
| ENST00000571691.5:c.[356A>C;361C>T;366C>A;381C>G;389T>A;426T>G] | ENSP00000461407.1:p.[Asn119Thr;Pro121Ser;Ala122=;Ile127Met;Va... | |
| ENST00000571721.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000460660.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000572105.6:c.[424A>C;429C>T;434C>A;449C>G;457T>A;494T>G] | ENSP00000462823.1:p.[Thr142Pro;Pro143=;Pro145Gln;Ser150Cys;Cy... | |
| ENST00000573283.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000458435.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000574671.5:n.[242A>C;247C>T;252C>A;267C>G;275T>A;312T>G] | ||
| ENST00000575087.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000459124.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000575659.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000459119.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000575842.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000458162.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000575994.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000460464.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000576209.5:n.[268A>C;273C>T;278C>A;293C>G;301T>A;338T>G] | ||
| ENST00000576214.2:n.[581A>C;586C>T;591C>A;606C>G;614T>A;651T>G] | ||
| ENST00000576544.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000461672.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| ENST00000576917.5:n.[436A>C;441C>T;446C>A;461C>G;469T>A;506T>G] | ||
| ENST00000615544.4:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | ENSP00000477968.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Va... | |
| NM_001199954.1:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | NP_001186883.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Val13... | |
| NM_001614.3:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | NP_001605.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Val139Gl... | |
| NR_037688.1:n.[522A>C;527C>T;532C>A;547C>G;555T>A;592T>G] | ||
| NM_001199954.2:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | NP_001186883.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Val13... | |
| NM_001614.4:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | NP_001605.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Val139Gl... | |
| NR_037688.2:n.[455A>C;460C>T;465C>A;480C>G;488T>A;525T>G] | ||
| NM_001614.5:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] MANE Select | NP_001605.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Val139Gl... | |
| NR_037688.3:n.[455A>C;460C>T;465C>A;480C>G;488T>A;525T>G] | ||
| NM_001199954.3:c.[383A>C;388C>T;393C>A;408C>G;416T>A;453T>G] | NP_001186883.1:p.[Asn128Thr;Pro130Ser;Ala131=;Ile136Met;Val13... |