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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511571A>T;81511588C>A;81511593A>G;81511607T>G] , CM000679.2:g.[81511537A>C;81511571A>T;81511588C>A;81511593A>G;81511607T>G] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478597A>T;79478614C>A;79478619A>G;79478633T>G] , CM000679.1:g.[79478563A>C;79478597A>T;79478614C>A;79478619A>G;79478633T>G] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093192A>T;77093209C>A;77093214A>G;77093228T>G] | NCBI36 |
| NG_011433.1:g.[6195A>C;6209T>C;6214G>T;6231T>A;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000466346.2:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000571691.6:c.[340-29A>C;340-15T>C;340-10G>T;347T>A;381T>G] | ENSP00000461407.2:p.[Leu116Gln;Ile127Met] | |
| ENST00000571721.6:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000460660.2:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000572105.7:c.[424A>C;438T>C;443G>T;460T>A;494T>G] | ENSP00000462823.1:p.[Thr142Pro;Cys146=;Trp148Leu;Cys154Ser;Le... | |
| ENST00000573283.7:c.[383A>C;397T>C;402G>T;419T>A;453T>G] MANE Select | ENSP00000458435.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000574671.6:n.[783A>C;797T>C;802G>T;819T>A;853T>G] | ||
| ENST00000575659.6:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000459119.2:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000575994.6:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000460464.2:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000576214.3:n.[684A>C;698T>C;703G>T;720T>A;754T>G] | ||
| ENST00000576544.6:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000461672.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000615544.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000477968.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000644774.2:c.[356A>C;370T>C;375G>T;392T>A;426T>G] | ENSP00000493648.2:p.[Asn119Thr;Tyr124His;Val125=;Leu131Gln;Il... | |
| ENST00000679410.1:n.[507A>C;521T>C;526G>T;543T>A;577T>G] | ||
| ENST00000679480.1:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000506201.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000679535.1:n.[684A>C;698T>C;703G>T;720T>A;754T>G] | ||
| ENST00000679778.1:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000505235.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000680227.1:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000506253.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000680727.1:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000505193.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000681052.1:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000505060.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000681092.1:c.[*187A>C;*201T>C;*206G>T;*223T>A;*257T>G] | ENSP00000506720.1:n.[*187A>C;*201T>C;*206G>T;*223T>A;*257T>G]... | |
| ENST00000681842.1:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000506126.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000331925.6:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000331514.2:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000570382.1:c.[340-29A>C;340-15T>C;340-10G>T;347T>A;381T>G] | ENSP00000466346.1:p.[Leu116Gln;Ile127Met] | |
| ENST00000571691.5:c.[356A>C;370T>C;375G>T;392T>A;426T>G] | ENSP00000461407.1:p.[Asn119Thr;Tyr124His;Val125=;Leu131Gln;Il... | |
| ENST00000571721.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000460660.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000572105.6:c.[424A>C;438T>C;443G>T;460T>A;494T>G] | ENSP00000462823.1:p.[Thr142Pro;Cys146=;Trp148Leu;Cys154Ser;Le... | |
| ENST00000573283.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000458435.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000574671.5:n.[242A>C;256T>C;261G>T;278T>A;312T>G] | ||
| ENST00000575087.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000459124.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000575659.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000459119.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000575842.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000458162.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000575994.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000460464.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000576209.5:n.[268A>C;282T>C;287G>T;304T>A;338T>G] | ||
| ENST00000576214.2:n.[581A>C;595T>C;600G>T;617T>A;651T>G] | ||
| ENST00000576544.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000461672.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| ENST00000576917.5:n.[436A>C;450T>C;455G>T;472T>A;506T>G] | ||
| ENST00000615544.4:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | ENSP00000477968.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Il... | |
| NM_001199954.1:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | NP_001186883.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Ile15... | |
| NM_001614.3:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | NP_001605.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Ile151Me... | |
| NR_037688.1:n.[522A>C;536T>C;541G>T;558T>A;592T>G] | ||
| NM_001199954.2:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | NP_001186883.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Ile15... | |
| NM_001614.4:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | NP_001605.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Ile151Me... | |
| NR_037688.2:n.[455A>C;469T>C;474G>T;491T>A;525T>G] | ||
| NM_001614.5:c.[383A>C;397T>C;402G>T;419T>A;453T>G] MANE Select | NP_001605.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Ile151Me... | |
| NR_037688.3:n.[455A>C;469T>C;474G>T;491T>A;525T>G] | ||
| NM_001199954.3:c.[383A>C;397T>C;402G>T;419T>A;453T>G] | NP_001186883.1:p.[Asn128Thr;Tyr133His;Val134=;Leu140Gln;Ile15... |