Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014256G>A , CM000672.2:g.89014256G>A	GRCh38
NC_000010.10:g.90774013G>A , CM000672.1:g.90774013G>A	GRCh37
NC_000010.9:g.90763993G>A	NCBI36
NG_009089.2:g.28726G>A , LRG_134:g.28726G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1123G>A
ENST00000355740.8:c.*137G>A	ENSP00000347979.3:n.*137G>A
ENST00000357339.7:c.751G>A	ENSP00000349896.2:p.Glu251Lys
ENST00000371857.8:n.2359G>A
ENST00000460510.6:c.97G>A	ENSP00000512812.1:p.Glu33Lys
ENST00000466081.6:n.2463G>A
ENST00000477270.6:c.859G>A	ENSP00000512813.1:p.Glu287Lys
ENST00000479522.6:c.*243G>A	ENSP00000424113.1:n.*243G>A
ENST00000484444.6:c.*255G>A	ENSP00000420975.1:n.*255G>A
ENST00000488877.6:c.705G>A	ENSP00000425159.1:n.705G>A
ENST00000492756.7:c.*243G>A	ENSP00000422453.1:n.*243G>A
ENST00000494799.6:c.97G>A	ENSP00000512834.1:p.Glu33Lys
ENST00000562983.3:c.97G>A	ENSP00000512845.1:p.Glu33Lys
ENST00000612663.6:c.*216G>A	ENSP00000477997.3:n.*216G>A
ENST00000640140.2:n.959G>A
ENST00000640250.2:n.313G>A
ENST00000640681.2:n.918G>A
ENST00000696723.1:n.4447G>A
ENST00000696741.1:n.2452G>A
ENST00000696742.1:n.2179G>A
ENST00000696743.1:n.3582G>A
ENST00000696744.1:n.853G>A
ENST00000696767.1:n.1148G>A
ENST00000696768.1:c.*137G>A	ENSP00000512859.1:n.*137G>A
ENST00000696769.1:n.2503G>A
ENST00000696771.1:c.97G>A	ENSP00000512860.1:p.Glu33Lys
ENST00000696772.1:n.2417G>A
ENST00000696773.1:n.2156G>A
ENST00000696774.1:n.5924G>A
ENST00000696776.1:c.907G>A	ENSP00000512861.1:p.Glu303Lys
ENST00000696777.1:n.2222G>A
ENST00000696778.1:n.1250G>A
ENST00000696779.1:c.421G>A	ENSP00000512862.1:p.Glu141Lys
ENST00000696780.1:c.844G>A	ENSP00000512863.1:p.Glu282Lys
ENST00000696781.1:c.559G>A	ENSP00000512864.1:p.Glu187Lys
ENST00000696782.1:c.*216G>A	ENSP00000512865.1:n.*216G>A
ENST00000696783.1:n.2682G>A
ENST00000696992.1:n.1931G>A
ENST00000696995.1:n.4343G>A
ENST00000696996.1:n.2256G>A
ENST00000696997.1:c.*444G>A	ENSP00000513028.1:n.*444G>A
ENST00000696998.1:n.2068G>A
ENST00000696999.1:c.97G>A	ENSP00000513029.1:p.Glu33Lys
ENST00000697035.1:c.*147G>A	ENSP00000513059.1:n.*147G>A
ENST00000697036.1:c.*230G>A	ENSP00000513060.1:n.*230G>A
ENST00000697037.1:n.849G>A
ENST00000697093.1:n.3050G>A
ENST00000697094.1:n.3397G>A
ENST00000697095.1:c.*2015G>A	ENSP00000513104.1:n.*2015G>A
ENST00000697096.1:n.1947G>A
ENST00000697097.1:c.97G>A	ENSP00000513105.1:p.Glu33Lys
ENST00000562983.2:n.1000G>A
ENST00000690268.1:c.895G>A	ENSP00000509810.1:p.Glu299Lys
ENST00000355740.7:c.*140G>A	ENSP00000347979.3:n.*140G>A
ENST00000612663.5:c.*216G>A	ENSP00000477997.3:n.*216G>A
ENST00000640140.1:n.986G>A
ENST00000640250.1:n.313G>A
ENST00000640681.1:n.935G>A
ENST00000652046.1:c.814G>A MANE Select	ENSP00000498466.1:p.Glu272Lys
ENST00000352159.8:c.*131G>A	ENSP00000345601.4:n.*131G>A
ENST00000355279.2:c.789G>A	ENSP00000347426.2:n.789G>A
ENST00000355740.6:c.814G>A	ENSP00000347979.2:p.Glu272Lys
ENST00000357339.6:c.751G>A	ENSP00000349896.2:p.Glu251Lys
ENST00000479522.5:c.*243G>A	ENSP00000424113.1:n.*243G>A
ENST00000484444.5:c.*255G>A	ENSP00000420975.1:n.*255G>A
ENST00000488877.5:c.*255G>A	ENSP00000425159.1:n.*255G>A
ENST00000492756.5:c.642G>A	ENSP00000422453.1:n.642G>A
ENST00000494410.5:c.*172G>A	ENSP00000423755.1:n.*172G>A
ENST00000612663.4:c.*161G>A	ENSP00000477997.2:n.*161G>A
NM_000043.4:c.814G>A , LRG_134t1:c.814G>A	NP_000034.1:p.Glu272Lys
NM_152871.2:c.751G>A	NP_690610.1:p.Glu251Lys
NM_152872.2:c.*126G>A	NP_690611.1:n.*126G>A
NR_028033.2:n.988G>A
NR_028034.2:n.850G>A
NR_028035.2:n.913G>A
NR_028036.2:n.1051G>A
XM_006717819.2:c.895G>A	XP_006717882.1:p.Glu299Lys
XM_011539764.1:c.976G>A	XP_011538066.1:p.Glu326Lys
XM_011539765.1:c.913G>A	XP_011538067.1:p.Glu305Lys
XM_011539766.1:c.895G>A	XP_011538068.1:p.Glu299Lys
XM_011539767.1:c.859G>A	XP_011538069.1:p.Glu287Lys
XR_945732.1:n.882G>A
XR_945733.1:n.819G>A
NM_000043.5:c.814G>A	NP_000034.1:p.Glu272Lys
NM_001320619.1:c.*137G>A	NP_001307548.1:n.*137G>A
NM_152871.3:c.751G>A	NP_690610.1:p.Glu251Lys
NM_152872.3:c.*126G>A	NP_690611.1:n.*126G>A
NR_028033.3:n.960G>A
NR_028034.3:n.822G>A
NR_028035.3:n.885G>A
NR_028036.3:n.1023G>A
NR_135313.1:n.940G>A
NR_135314.1:n.1123G>A
NR_135315.1:n.876G>A
XM_006717819.3:c.895G>A	XP_006717882.1:p.Glu299Lys
XM_011539764.2:c.976G>A	XP_011538066.1:p.Glu326Lys
XM_011539765.2:c.913G>A	XP_011538067.1:p.Glu305Lys
XM_011539766.2:c.895G>A	XP_011538068.1:p.Glu299Lys
XM_011539767.3:c.859G>A	XP_011538069.1:p.Glu287Lys
XR_945732.3:n.882G>A
XR_945733.2:n.819G>A
NM_000043.6:c.814G>A MANE Select	NP_000034.1:p.Glu272Lys
NM_001320619.2:c.*137G>A	NP_001307548.1:n.*137G>A
NM_152871.4:c.751G>A	NP_690610.1:p.Glu251Lys
NM_152872.4:c.*126G>A	NP_690611.1:n.*126G>A
NR_028033.4:n.721G>A
NR_028034.4:n.583G>A
NR_028035.4:n.646G>A
NR_028036.4:n.784G>A
NR_135313.2:n.701G>A
NR_135314.2:n.980G>A
NR_135315.2:n.733G>A

Linked Data

Genomic Alleles

Transcript Alleles