Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014122T>A , CM000672.2:g.89014122T>A	GRCh38
NC_000010.10:g.90773879T>A , CM000672.1:g.90773879T>A	GRCh37
NC_000010.9:g.90763859T>A	NCBI36
NG_009089.2:g.28592T>A , LRG_134:g.28592T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.989T>A
ENST00000355740.8:c.*3T>A	ENSP00000347979.3:n.*3T>A
ENST00000357339.7:c.617T>A	ENSP00000349896.2:p.Val206Asp
ENST00000371857.8:n.2225T>A
ENST00000460510.6:c.-38T>A	ENSP00000512812.1:n.-38T>A
ENST00000466081.6:n.2329T>A
ENST00000477270.6:c.725T>A	ENSP00000512813.1:p.Val242Asp
ENST00000479522.6:c.*109T>A	ENSP00000424113.1:n.*109T>A
ENST00000484444.6:c.*121T>A	ENSP00000420975.1:n.*121T>A
ENST00000488877.6:c.571T>A	ENSP00000425159.1:n.571T>A
ENST00000492756.7:c.*109T>A	ENSP00000422453.1:n.*109T>A
ENST00000494799.6:c.-38T>A	ENSP00000512834.1:n.-38T>A
ENST00000562983.3:c.-38T>A	ENSP00000512845.1:n.-38T>A
ENST00000612663.6:c.*82T>A	ENSP00000477997.3:n.*82T>A
ENST00000640140.2:n.825T>A
ENST00000640250.2:n.179T>A
ENST00000640681.2:n.784T>A
ENST00000696723.1:n.4313T>A
ENST00000696741.1:n.2318T>A
ENST00000696742.1:n.2045T>A
ENST00000696743.1:n.3448T>A
ENST00000696744.1:n.719T>A
ENST00000696767.1:n.1014T>A
ENST00000696768.1:c.*3T>A	ENSP00000512859.1:n.*3T>A
ENST00000696769.1:n.2369T>A
ENST00000696771.1:c.-38T>A	ENSP00000512860.1:n.-38T>A
ENST00000696772.1:n.2283T>A
ENST00000696773.1:n.2022T>A
ENST00000696774.1:n.5790T>A
ENST00000696776.1:c.773T>A	ENSP00000512861.1:p.Val258Asp
ENST00000696777.1:n.2088T>A
ENST00000696778.1:n.1116T>A
ENST00000696779.1:c.287T>A	ENSP00000512862.1:p.Val96Asp
ENST00000696780.1:c.710T>A	ENSP00000512863.1:p.Val237Asp
ENST00000696781.1:c.425T>A	ENSP00000512864.1:p.Val142Asp
ENST00000696782.1:c.*82T>A	ENSP00000512865.1:n.*82T>A
ENST00000696783.1:n.2548T>A
ENST00000696992.1:n.1797T>A
ENST00000696995.1:n.4209T>A
ENST00000696996.1:n.2122T>A
ENST00000696997.1:c.*310T>A	ENSP00000513028.1:n.*310T>A
ENST00000696998.1:n.1934T>A
ENST00000696999.1:c.-38T>A	ENSP00000513029.1:n.-38T>A
ENST00000697035.1:c.*13T>A	ENSP00000513059.1:n.*13T>A
ENST00000697036.1:c.*96T>A	ENSP00000513060.1:n.*96T>A
ENST00000697037.1:n.715T>A
ENST00000697093.1:n.2916T>A
ENST00000697094.1:n.3263T>A
ENST00000697095.1:c.*1881T>A	ENSP00000513104.1:n.*1881T>A
ENST00000697096.1:n.1813T>A
ENST00000697097.1:c.-38T>A	ENSP00000513105.1:n.-38T>A
ENST00000562983.2:n.866T>A
ENST00000690268.1:c.761T>A	ENSP00000509810.1:p.Val254Asp
ENST00000355740.7:c.*6T>A	ENSP00000347979.3:n.*6T>A
ENST00000612663.5:c.*82T>A	ENSP00000477997.3:n.*82T>A
ENST00000640140.1:n.852T>A
ENST00000640250.1:n.179T>A
ENST00000640681.1:n.801T>A
ENST00000652046.1:c.680T>A MANE Select	ENSP00000498466.1:p.Val227Asp
ENST00000313771.9:n.989T>A
ENST00000352159.8:c.699T>A	ENSP00000345601.4:p.Cys233Ter
ENST00000355279.2:c.655T>A	ENSP00000347426.2:p.Leu219Met
ENST00000355740.6:c.680T>A	ENSP00000347979.2:p.Val227Asp
ENST00000357339.6:c.617T>A	ENSP00000349896.2:p.Val206Asp
ENST00000479522.5:c.*109T>A	ENSP00000424113.1:n.*109T>A
ENST00000484444.5:c.*121T>A	ENSP00000420975.1:n.*121T>A
ENST00000488877.5:c.*121T>A	ENSP00000425159.1:n.*121T>A
ENST00000492756.5:c.508T>A	ENSP00000422453.1:n.508T>A
ENST00000494410.5:c.*38T>A	ENSP00000423755.1:n.*38T>A
ENST00000494799.5:n.587T>A
ENST00000612663.4:c.*27T>A	ENSP00000477997.2:n.*27T>A
ENST00000615406.4:c.680T>A	ENSP00000484575.1:p.Val227Asp
ENST00000626542.2:c.680T>A	ENSP00000485876.1:p.Val227Asp
NM_000043.4:c.680T>A , LRG_134t1:c.680T>A	NP_000034.1:p.Val227Asp
NM_152871.2:c.617T>A	NP_690610.1:p.Val206Asp
NM_152872.2:c.655T>A	NP_690611.1:p.Leu219Met
NR_028033.2:n.854T>A
NR_028034.2:n.716T>A
NR_028035.2:n.779T>A
NR_028036.2:n.917T>A
XM_006717819.2:c.761T>A	XP_006717882.1:p.Val254Asp
XM_011539764.1:c.842T>A	XP_011538066.1:p.Val281Asp
XM_011539765.1:c.779T>A	XP_011538067.1:p.Val260Asp
XM_011539766.1:c.761T>A	XP_011538068.1:p.Val254Asp
XM_011539767.1:c.725T>A	XP_011538069.1:p.Val242Asp
XR_945732.1:n.748T>A
XR_945733.1:n.685T>A
NM_000043.5:c.680T>A	NP_000034.1:p.Val227Asp
NM_001320619.1:c.*3T>A	NP_001307548.1:n.*3T>A
NM_152871.3:c.617T>A	NP_690610.1:p.Val206Asp
NM_152872.3:c.655T>A	NP_690611.1:p.Leu219Met
NR_028033.3:n.826T>A
NR_028034.3:n.688T>A
NR_028035.3:n.751T>A
NR_028036.3:n.889T>A
NR_135313.1:n.806T>A
NR_135314.1:n.989T>A
NR_135315.1:n.742T>A
XM_006717819.3:c.761T>A	XP_006717882.1:p.Val254Asp
XM_011539764.2:c.842T>A	XP_011538066.1:p.Val281Asp
XM_011539765.2:c.779T>A	XP_011538067.1:p.Val260Asp
XM_011539766.2:c.761T>A	XP_011538068.1:p.Val254Asp
XM_011539767.3:c.725T>A	XP_011538069.1:p.Val242Asp
XR_945732.3:n.748T>A
XR_945733.2:n.685T>A
NM_000043.6:c.680T>A MANE Select	NP_000034.1:p.Val227Asp
NM_001320619.2:c.*3T>A	NP_001307548.1:n.*3T>A
NM_152871.4:c.617T>A	NP_690610.1:p.Val206Asp
NM_152872.4:c.655T>A	NP_690611.1:p.Leu219Met
NR_028033.4:n.587T>A
NR_028034.4:n.449T>A
NR_028035.4:n.512T>A
NR_028036.4:n.650T>A
NR_135313.2:n.567T>A
NR_135314.2:n.846T>A
NR_135315.2:n.599T>A

Linked Data

Genomic Alleles

Transcript Alleles