This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511571A>T;81511574A>T;81511608T>G;81511622A>T] , CM000679.2:g.[81511571A>T;81511574A>T;81511608T>G;81511622A>T] | GRCh38 |
| NC_000017.10:g.[79478597A>T;79478600A>T;79478634T>G;79478648A>T] , CM000679.1:g.[79478597A>T;79478600A>T;79478634T>G;79478648A>T] | GRCh37 |
| NC_000017.9:g.[77093192A>T;77093195A>T;77093229T>G;77093243A>T] | NCBI36 |
| NG_011433.1:g.[6180T>A;6194A>C;6228T>A;6231T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000466346.2:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000571691.6:c.[340-44T>A;340-30A>C;344T>A;347T>A] | ENSP00000461407.2:p.[Val115Glu;Leu116Gln] | |
| ENST00000571721.6:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000460660.2:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000572105.7:c.[409T>A;423A>C;457T>A;460T>A] | ENSP00000462823.1:p.[Cys137Ser;Ser141=;Cys153Ser;Cys154Ser] | |
| ENST00000573283.7:c.[368T>A;382A>C;416T>A;419T>A] MANE Select | ENSP00000458435.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000574671.6:n.[768T>A;782A>C;816T>A;819T>A] | ||
| ENST00000575659.6:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000459119.2:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000575994.6:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000460464.2:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000576214.3:n.[669T>A;683A>C;717T>A;720T>A] | ||
| ENST00000576544.6:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000461672.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000615544.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000477968.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000644774.2:c.[341T>A;355A>C;389T>A;392T>A] | ENSP00000493648.2:p.[Met114Lys;Asn119His;Val130Glu;Leu131Gln]... | |
| ENST00000679410.1:n.[492T>A;506A>C;540T>A;543T>A] | ||
| ENST00000679480.1:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000506201.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000679535.1:n.[669T>A;683A>C;717T>A;720T>A] | ||
| ENST00000679778.1:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000505235.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000680227.1:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000506253.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000680727.1:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000505193.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000681052.1:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000505060.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000681092.1:c.[*172T>A;*186A>C;*220T>A;*223T>A] | ENSP00000506720.1:n.[*172T>A;*186A>C;*220T>A;*223T>A] | |
| ENST00000681842.1:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000506126.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000331925.6:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000331514.2:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000570382.1:c.[340-44T>A;340-30A>C;344T>A;347T>A] | ENSP00000466346.1:p.[Val115Glu;Leu116Gln] | |
| ENST00000571691.5:c.[341T>A;355A>C;389T>A;392T>A] | ENSP00000461407.1:p.[Met114Lys;Asn119His;Val130Glu;Leu131Gln]... | |
| ENST00000571721.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000460660.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000572105.6:c.[409T>A;423A>C;457T>A;460T>A] | ENSP00000462823.1:p.[Cys137Ser;Ser141=;Cys153Ser;Cys154Ser] | |
| ENST00000573283.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000458435.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000574671.5:n.[227T>A;241A>C;275T>A;278T>A] | ||
| ENST00000575087.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000459124.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000575659.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000459119.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000575842.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000458162.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000575994.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000460464.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000576209.5:n.[253T>A;267A>C;301T>A;304T>A] | ||
| ENST00000576214.2:n.[566T>A;580A>C;614T>A;617T>A] | ||
| ENST00000576544.5:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000461672.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| ENST00000576917.5:n.[421T>A;435A>C;469T>A;472T>A] | ||
| ENST00000615544.4:c.[368T>A;382A>C;416T>A;419T>A] | ENSP00000477968.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln]... | |
| NM_001199954.1:c.[368T>A;382A>C;416T>A;419T>A] | NP_001186883.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln] | |
| NM_001614.3:c.[368T>A;382A>C;416T>A;419T>A] | NP_001605.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln] | |
| NR_037688.1:n.[507T>A;521A>C;555T>A;558T>A] | ||
| NM_001199954.2:c.[368T>A;382A>C;416T>A;419T>A] | NP_001186883.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln] | |
| NM_001614.4:c.[368T>A;382A>C;416T>A;419T>A] | NP_001605.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln] | |
| NR_037688.2:n.[440T>A;454A>C;488T>A;491T>A] | ||
| NM_001614.5:c.[368T>A;382A>C;416T>A;419T>A] MANE Select | NP_001605.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln] | |
| NR_037688.3:n.[440T>A;454A>C;488T>A;491T>A] | ||
| NM_001199954.3:c.[368T>A;382A>C;416T>A;419T>A] | NP_001186883.1:p.[Met123Lys;Asn128His;Val139Glu;Leu140Gln] |