This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511434T>A;81511436A>T;81511446C>T;81511459A>C;81511461G>T;81511481G>T] , CM000679.2:g.[81511434T>A;81511436A>T;81511446C>T;81511459A>C;81511461G>T;81511481G>T] | GRCh38 |
| NC_000017.10:g.[79478460T>A;79478462A>T;79478472C>T;79478485A>C;79478487G>T;79478507G>T] , CM000679.1:g.[79478460T>A;79478462A>T;79478472C>T;79478485A>C;79478487G>T;79478507G>T] | GRCh37 |
| NC_000017.9:g.[77093055T>A;77093057A>T;77093067C>T;77093080A>C;77093082G>T;77093102G>T] | NCBI36 |
| NG_011433.1:g.[6321C>A;6341C>A;6343T>G;6356G>A;6366T>A;6368A>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000466346.2:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000571691.6:c.[437C>A;457C>A;459T>G;472G>A;482T>A;484A>T] | ENSP00000461407.2:p.[Ala146Asp;Arg153Ser;Arg153=;Gly158Ser;Le... | |
| ENST00000571721.6:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000460660.2:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000572105.7:c.[550C>A;570C>A;572T>G;585G>A;595T>A;597A>T] | ENSP00000462823.1:p.[Pro184Thr;Cys190Ter] | |
| ENST00000573283.7:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] MANE Select | ENSP00000458435.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000574671.6:n.[909C>A;929C>A;931T>G;944G>A;954T>A;956A>T] | ||
| ENST00000575659.6:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000459119.2:p.[Ala170Asp;Arg177Thr;Gly182Ser;Leu185Gln;... | |
| ENST00000575994.6:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000460464.2:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000576214.3:n.[810C>A;830C>A;832T>G;845G>A;855T>A;857A>T] | ||
| ENST00000576544.6:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000461672.1:p.[Ala170Asp;Arg177Met;Gly182Ser;Leu185Gln;... | |
| ENST00000615544.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000477968.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000644774.2:c.[482C>A;502C>A;504T>G;517G>A;527T>A;529A>T] | ENSP00000493648.2:p.[Ala161Asp;Arg168Ser;Arg168=;Gly173Ser;Le... | |
| ENST00000679410.1:n.[633C>A;653C>A;655T>G;668G>A;678T>A;680A>T] | ||
| ENST00000679480.1:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000506201.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000679535.1:n.[810C>A;830C>A;832T>G;845G>A;855T>A;857A>T] | ||
| ENST00000679778.1:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000505235.1:p.[Ala170Asp;Arg177Thr;Gly182Ser;Leu185Gln;... | |
| ENST00000680227.1:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000506253.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000680727.1:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000505193.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000681052.1:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000505060.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000681092.1:c.[*313C>A;*333C>A;*335T>G;*348G>A;*358T>A;*360A>T] | ENSP00000506720.1:n.[*313C>A;*333C>A;*335T>G;*348G>A;*358T>A;... | |
| ENST00000681842.1:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000506126.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000331925.6:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000331514.2:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000571691.5:c.[482C>A;502C>A;504T>G;517G>A;527T>A;529A>T] | ENSP00000461407.1:p.[Ala161Asp;Arg168Ser;Arg168=;Gly173Ser;Le... | |
| ENST00000572105.6:c.[550C>A;570C>A;572T>G;585G>A;595T>A;597A>T] | ENSP00000462823.1:p.[Pro184Thr;Cys190Ter] | |
| ENST00000573283.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000458435.1:p.[Ala170Asp;Arg177=;Gly182Ser;Leu185Gln;Th... | |
| ENST00000574671.5:n.[368C>A;388C>A;390T>G;403G>A;413T>A;415A>T] | ||
| ENST00000575087.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000459124.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000575659.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000459119.1:p.[Ala170Asp;Arg177Thr;Gly182Ser;Leu185Gln;... | |
| ENST00000575842.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000458162.1:p.[Ala170Asp;Arg177Lys;Gly182Ser;Leu185Gln;... | |
| ENST00000575994.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000460464.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Le... | |
| ENST00000576209.5:n.[394C>A;414C>A;416T>G;429G>A;439T>A;441A>T] | ||
| ENST00000576214.2:n.[707C>A;727C>A;729T>G;742G>A;752T>A;754A>T] | ||
| ENST00000576544.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000461672.1:p.[Ala170Asp;Arg177Met;Gly182Ser;Leu185Gln;... | |
| ENST00000576917.5:n.[562C>A;582C>A;584T>G;597G>A;607T>A;609A>T] | ||
| ENST00000615544.4:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | ENSP00000477968.1:p.[Ala170Asp;Arg177Met;Gly182Ser;Leu185Gln;... | |
| NM_001199954.1:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | NP_001186883.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Leu18... | |
| NM_001614.3:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | NP_001605.1:p.[Ala170Asp;Arg177Met;Gly182Ser;Leu185Gln;Thr186... | |
| NR_037688.1:n.[648C>A;668C>A;670T>G;683G>A;693T>A;695A>T] | ||
| NM_001199954.2:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | NP_001186883.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Leu18... | |
| NM_001614.4:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | NP_001605.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Leu185_T... | |
| NR_037688.2:n.[581C>A;601C>A;603T>G;616G>A;626T>A;628A>T] | ||
| NM_001614.5:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] MANE Select | NP_001605.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Leu185_T... | |
| NR_037688.3:n.[581C>A;601C>A;603T>G;616G>A;626T>A;628A>T] | ||
| NM_001199954.3:c.[509C>A;529C>A;531T>G;544G>A;554T>A;556A>T] | NP_001186883.1:p.[Ala170Asp;Arg177Ser;Arg177=;Gly182Ser;Leu18... |