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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511495G>C;81511537A>C;81511539T=;81511548T>G;81511558G>T;81511562T>A] , CM000679.2:g.[81511495G>C;81511537A>C;81511539T=;81511548T>G;81511558G>T;81511562T>A] | GRCh38 |
| NC_000017.10:g.[79478521G>C;79478563A>C;79478565T=;79478574T>G;79478584G>T;79478588T>A] , CM000679.1:g.[79478521G>C;79478563A>C;79478565T=;79478574T>G;79478584G>T;79478588T>A] | GRCh37 |
| NC_000017.9:g.[77093116G>C;77093158A>C;77093160T=;77093169T>G;77093179G>T;77093183T>A] | NCBI36 |
| NG_011433.1:g.[6240A>T;6244C>A;6254A>C;6263A=;6265T>G;6307C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000466346.2:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000571691.6:c.[356A>T;360C>A;370A>C;379A=;381T>G;423C>G] | ENSP00000461407.2:p.[Tyr119Phe;Ala120=;Thr124Pro;Ile127=;Ile1... | |
| ENST00000571721.6:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000460660.2:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000572105.7:c.[469A>T;473C>A;483A>C;492A=;494T>G;536C>G] | ENSP00000462823.1:p.[Thr157Ser;Pro158His;Ala161=;Ala164=;Leu1... | |
| ENST00000573283.7:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] MANE Select | ENSP00000458435.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000574671.6:n.[828A>T;832C>A;842A>C;851A=;853T>G;895C>G] | ||
| ENST00000575659.6:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000459119.2:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Arg;Il... | |
| ENST00000575994.6:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000460464.2:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000576214.3:n.[729A>T;733C>A;743A>C;752A=;754T>G;796C>G] | ||
| ENST00000576544.6:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000461672.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Thr;Il... | |
| ENST00000615544.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000477968.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000644774.2:c.[401A>T;405C>A;415A>C;424A=;426T>G;468C>G] | ENSP00000493648.2:p.[Tyr134Phe;Ala135=;Thr139Pro;Ile142=;Ile1... | |
| ENST00000679410.1:n.[552A>T;556C>A;566A>C;575A=;577T>G;619C>G] | ||
| ENST00000679480.1:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000506201.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000679535.1:n.[729A>T;733C>A;743A>C;752A=;754T>G;796C>G] | ||
| ENST00000679778.1:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000505235.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Thr;Il... | |
| ENST00000680227.1:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000506253.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000680727.1:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000505193.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000681052.1:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000505060.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000681092.1:c.[*232A>T;*236C>A;*246A>C;*255A=;*257T>G;*299C>G] | ENSP00000506720.1:n.[*232A>T;*236C>A;*246A>C;*255A=;*257T>G;*... | |
| ENST00000681842.1:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000506126.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000331925.6:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000331514.2:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000571691.5:c.[401A>T;405C>A;415A>C;424A=;426T>G;468C>G] | ENSP00000461407.1:p.[Tyr134Phe;Ala135=;Thr139Pro;Ile142=;Ile1... | |
| ENST00000572105.6:c.[469A>T;473C>A;483A>C;492A=;494T>G;536C>G] | ENSP00000462823.1:p.[Thr157Ser;Pro158His;Ala161=;Ala164=;Leu1... | |
| ENST00000573283.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000458435.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Arg;Il... | |
| ENST00000574671.5:n.[287A>T;291C>A;301A>C;310A=;312T>G;354C>G] | ||
| ENST00000575087.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000459124.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000575659.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000459119.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Arg;Il... | |
| ENST00000575842.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000458162.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Arg;Il... | |
| ENST00000575994.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000460464.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile1... | |
| ENST00000576209.5:n.[313A>T;317C>A;327A>C;336A=;338T>G;380C>G] | ||
| ENST00000576214.2:n.[626A>T;630C>A;640A>C;649A=;651T>G;693C>G] | ||
| ENST00000576544.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000461672.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Thr;Il... | |
| ENST00000576917.5:n.[481A>T;485C>A;495A>C;504A=;506T>G;548C>G] | ||
| ENST00000615544.4:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | ENSP00000477968.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Thr;Il... | |
| NM_001199954.1:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | NP_001186883.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile151M... | |
| NM_001614.3:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | NP_001605.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151Thr;Ile165Me... | |
| NR_037688.1:n.[567A>T;571C>A;581A>C;590A=;592T>G;634C>G] | ||
| NM_001199954.2:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | NP_001186883.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile151M... | |
| NM_001614.4:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | NP_001605.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile151Met;... | |
| NR_037688.2:n.[500A>T;504C>A;514A>C;523A=;525T>G;567C>G] | ||
| NM_001614.5:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] MANE Select | NP_001605.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile151Met;... | |
| NR_037688.3:n.[500A>T;504C>A;514A>C;523A=;525T>G;567C>G] | ||
| NM_001199954.3:c.[428A>T;432C>A;442A>C;451A=;453T>G;495C>G] | NP_001186883.1:p.[Tyr143Phe;Ala144=;Thr148Pro;Ile151=;Ile151M... |