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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511588C>A;81511602G>T;81511626T>A] , CM000679.2:g.[81511588C>A;81511602G>T;81511626T>A] | GRCh38 |
| NC_000017.10:g.[79478614C>A;79478628G>T;79478652T>A] , CM000679.1:g.[79478614C>A;79478628G>T;79478652T>A] | GRCh37 |
| NC_000017.9:g.[77093209C>A;77093223G>T;77093247T>A] | NCBI36 |
| NG_011433.1:g.[6176A>T;6200C>A;6214G>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[364A>T;388C>A;402G>T] | ENSP00000466346.2:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000571691.6:c.[340-48A>T;340-24C>A;340-10G>T] | ENSP00000461407.2:n.[340-48A>T;340-24C>A;340-10G>T] | |
| ENST00000571721.6:c.[364A>T;388C>A;402G>T] | ENSP00000460660.2:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000572105.7:c.[405A>T;429C>A;443G>T] | ENSP00000462823.1:p.[Arg135Ser;Pro143=;Trp148Leu] | |
| ENST00000573283.7:c.[364A>T;388C>A;402G>T] MANE Select | ENSP00000458435.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000574671.6:n.[764A>T;788C>A;802G>T] | ||
| ENST00000575659.6:c.[364A>T;388C>A;402G>T] | ENSP00000459119.2:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000575994.6:c.[364A>T;388C>A;402G>T] | ENSP00000460464.2:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000576214.3:n.[665A>T;689C>A;703G>T] | ||
| ENST00000576544.6:c.[364A>T;388C>A;402G>T] | ENSP00000461672.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000615544.5:c.[364A>T;388C>A;402G>T] | ENSP00000477968.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000644774.2:c.[337A>T;361C>A;375G>T] | ENSP00000493648.2:p.[Ile113Phe;Pro121Thr;Val125=] | |
| ENST00000679410.1:n.[488A>T;512C>A;526G>T] | ||
| ENST00000679480.1:c.[364A>T;388C>A;402G>T] | ENSP00000506201.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000679535.1:n.[665A>T;689C>A;703G>T] | ||
| ENST00000679778.1:c.[364A>T;388C>A;402G>T] | ENSP00000505235.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000680227.1:c.[364A>T;388C>A;402G>T] | ENSP00000506253.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000680727.1:c.[364A>T;388C>A;402G>T] | ENSP00000505193.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000681052.1:c.[364A>T;388C>A;402G>T] | ENSP00000505060.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000681092.1:c.[*168A>T;*192C>A;*206G>T] | ENSP00000506720.1:n.[*168A>T;*192C>A;*206G>T] | |
| ENST00000681842.1:c.[364A>T;388C>A;402G>T] | ENSP00000506126.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000331925.6:c.[364A>T;388C>A;402G>T] | ENSP00000331514.2:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000570382.1:c.[340-48A>T;340-24C>A;340-10G>T] | ENSP00000466346.1:n.[340-48A>T;340-24C>A;340-10G>T] | |
| ENST00000571691.5:c.[337A>T;361C>A;375G>T] | ENSP00000461407.1:p.[Ile113Phe;Pro121Thr;Val125=] | |
| ENST00000571721.5:c.[364A>T;388C>A;402G>T] | ENSP00000460660.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000572105.6:c.[405A>T;429C>A;443G>T] | ENSP00000462823.1:p.[Arg135Ser;Pro143=;Trp148Leu] | |
| ENST00000573283.5:c.[364A>T;388C>A;402G>T] | ENSP00000458435.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000574671.5:n.[223A>T;247C>A;261G>T] | ||
| ENST00000575087.5:c.[364A>T;388C>A;402G>T] | ENSP00000459124.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000575659.5:c.[364A>T;388C>A;402G>T] | ENSP00000459119.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000575842.5:c.[364A>T;388C>A;402G>T] | ENSP00000458162.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000575994.5:c.[364A>T;388C>A;402G>T] | ENSP00000460464.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000576209.5:n.[249A>T;273C>A;287G>T] | ||
| ENST00000576214.2:n.[562A>T;586C>A;600G>T] | ||
| ENST00000576544.5:c.[364A>T;388C>A;402G>T] | ENSP00000461672.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| ENST00000576917.5:n.[417A>T;441C>A;455G>T] | ||
| ENST00000615544.4:c.[364A>T;388C>A;402G>T] | ENSP00000477968.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| NM_001199954.1:c.[364A>T;388C>A;402G>T] | NP_001186883.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| NM_001614.3:c.[364A>T;388C>A;402G>T] | NP_001605.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| NR_037688.1:n.[503A>T;527C>A;541G>T] | ||
| NM_001199954.2:c.[364A>T;388C>A;402G>T] | NP_001186883.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| NM_001614.4:c.[364A>T;388C>A;402G>T] | NP_001605.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| NR_037688.2:n.[436A>T;460C>A;474G>T] | ||
| NM_001614.5:c.[364A>T;388C>A;402G>T] MANE Select | NP_001605.1:p.[Ile122Phe;Pro130Thr;Val134=] | |
| NR_037688.3:n.[436A>T;460C>A;474G>T] | ||
| NM_001199954.3:c.[364A>T;388C>A;402G>T] | NP_001186883.1:p.[Ile122Phe;Pro130Thr;Val134=] |