Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014176T>A , CM000672.2:g.89014176T>A	GRCh38
NC_000010.10:g.90773933T>A , CM000672.1:g.90773933T>A	GRCh37
NC_000010.9:g.90763913T>A	NCBI36
NG_009089.2:g.28646T>A , LRG_134:g.28646T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1043T>A
ENST00000355740.8:c.*57T>A	ENSP00000347979.3:n.*57T>A
ENST00000357339.7:c.671T>A	ENSP00000349896.2:p.Val224Asp
ENST00000371857.8:n.2279T>A
ENST00000460510.6:c.17T>A	ENSP00000512812.1:p.Val6Asp
ENST00000466081.6:n.2383T>A
ENST00000477270.6:c.779T>A	ENSP00000512813.1:p.Val260Asp
ENST00000479522.6:c.*163T>A	ENSP00000424113.1:n.*163T>A
ENST00000484444.6:c.*175T>A	ENSP00000420975.1:n.*175T>A
ENST00000488877.6:c.625T>A	ENSP00000425159.1:n.625T>A
ENST00000492756.7:c.*163T>A	ENSP00000422453.1:n.*163T>A
ENST00000494799.6:c.17T>A	ENSP00000512834.1:p.Val6Asp
ENST00000562983.3:c.17T>A	ENSP00000512845.1:p.Val6Asp
ENST00000612663.6:c.*136T>A	ENSP00000477997.3:n.*136T>A
ENST00000640140.2:n.879T>A
ENST00000640250.2:n.233T>A
ENST00000640681.2:n.838T>A
ENST00000696723.1:n.4367T>A
ENST00000696741.1:n.2372T>A
ENST00000696742.1:n.2099T>A
ENST00000696743.1:n.3502T>A
ENST00000696744.1:n.773T>A
ENST00000696767.1:n.1068T>A
ENST00000696768.1:c.*57T>A	ENSP00000512859.1:n.*57T>A
ENST00000696769.1:n.2423T>A
ENST00000696771.1:c.17T>A	ENSP00000512860.1:p.Val6Asp
ENST00000696772.1:n.2337T>A
ENST00000696773.1:n.2076T>A
ENST00000696774.1:n.5844T>A
ENST00000696776.1:c.827T>A	ENSP00000512861.1:p.Val276Asp
ENST00000696777.1:n.2142T>A
ENST00000696778.1:n.1170T>A
ENST00000696779.1:c.341T>A	ENSP00000512862.1:p.Val114Asp
ENST00000696780.1:c.764T>A	ENSP00000512863.1:p.Val255Asp
ENST00000696781.1:c.479T>A	ENSP00000512864.1:p.Val160Asp
ENST00000696782.1:c.*136T>A	ENSP00000512865.1:n.*136T>A
ENST00000696783.1:n.2602T>A
ENST00000696992.1:n.1851T>A
ENST00000696995.1:n.4263T>A
ENST00000696996.1:n.2176T>A
ENST00000696997.1:c.*364T>A	ENSP00000513028.1:n.*364T>A
ENST00000696998.1:n.1988T>A
ENST00000696999.1:c.17T>A	ENSP00000513029.1:p.Val6Asp
ENST00000697035.1:c.*67T>A	ENSP00000513059.1:n.*67T>A
ENST00000697036.1:c.*150T>A	ENSP00000513060.1:n.*150T>A
ENST00000697037.1:n.769T>A
ENST00000697093.1:n.2970T>A
ENST00000697094.1:n.3317T>A
ENST00000697095.1:c.*1935T>A	ENSP00000513104.1:n.*1935T>A
ENST00000697096.1:n.1867T>A
ENST00000697097.1:c.17T>A	ENSP00000513105.1:p.Val6Asp
ENST00000562983.2:n.920T>A
ENST00000690268.1:c.815T>A	ENSP00000509810.1:p.Val272Asp
ENST00000355740.7:c.*60T>A	ENSP00000347979.3:n.*60T>A
ENST00000612663.5:c.*136T>A	ENSP00000477997.3:n.*136T>A
ENST00000640140.1:n.906T>A
ENST00000640250.1:n.233T>A
ENST00000640681.1:n.855T>A
ENST00000652046.1:c.734T>A MANE Select	ENSP00000498466.1:p.Val245Asp
ENST00000313771.9:n.1043T>A
ENST00000352159.8:c.*51T>A	ENSP00000345601.4:n.*51T>A
ENST00000355279.2:c.709T>A	ENSP00000347426.2:n.709T>A
ENST00000355740.6:c.734T>A	ENSP00000347979.2:p.Val245Asp
ENST00000357339.6:c.671T>A	ENSP00000349896.2:p.Val224Asp
ENST00000479522.5:c.*163T>A	ENSP00000424113.1:n.*163T>A
ENST00000484444.5:c.*175T>A	ENSP00000420975.1:n.*175T>A
ENST00000488877.5:c.*175T>A	ENSP00000425159.1:n.*175T>A
ENST00000492756.5:c.562T>A	ENSP00000422453.1:n.562T>A
ENST00000494410.5:c.*92T>A	ENSP00000423755.1:n.*92T>A
ENST00000494799.5:n.641T>A
ENST00000612663.4:c.*81T>A	ENSP00000477997.2:n.*81T>A
ENST00000615406.4:c.734T>A	ENSP00000484575.1:p.Val245Asp
ENST00000626542.2:c.732T>A	ENSP00000485876.1:p.Ser244Arg
NM_000043.4:c.734T>A , LRG_134t1:c.734T>A	NP_000034.1:p.Val245Asp
NM_152871.2:c.671T>A	NP_690610.1:p.Val224Asp
NM_152872.2:c.*46T>A	NP_690611.1:n.*46T>A
NR_028033.2:n.908T>A
NR_028034.2:n.770T>A
NR_028035.2:n.833T>A
NR_028036.2:n.971T>A
XM_006717819.2:c.815T>A	XP_006717882.1:p.Val272Asp
XM_011539764.1:c.896T>A	XP_011538066.1:p.Val299Asp
XM_011539765.1:c.833T>A	XP_011538067.1:p.Val278Asp
XM_011539766.1:c.815T>A	XP_011538068.1:p.Val272Asp
XM_011539767.1:c.779T>A	XP_011538069.1:p.Val260Asp
XR_945732.1:n.802T>A
XR_945733.1:n.739T>A
NM_000043.5:c.734T>A	NP_000034.1:p.Val245Asp
NM_001320619.1:c.*57T>A	NP_001307548.1:n.*57T>A
NM_152871.3:c.671T>A	NP_690610.1:p.Val224Asp
NM_152872.3:c.*46T>A	NP_690611.1:n.*46T>A
NR_028033.3:n.880T>A
NR_028034.3:n.742T>A
NR_028035.3:n.805T>A
NR_028036.3:n.943T>A
NR_135313.1:n.860T>A
NR_135314.1:n.1043T>A
NR_135315.1:n.796T>A
XM_006717819.3:c.815T>A	XP_006717882.1:p.Val272Asp
XM_011539764.2:c.896T>A	XP_011538066.1:p.Val299Asp
XM_011539765.2:c.833T>A	XP_011538067.1:p.Val278Asp
XM_011539766.2:c.815T>A	XP_011538068.1:p.Val272Asp
XM_011539767.3:c.779T>A	XP_011538069.1:p.Val260Asp
XR_945732.3:n.802T>A
XR_945733.2:n.739T>A
NM_000043.6:c.734T>A MANE Select	NP_000034.1:p.Val245Asp
NM_001320619.2:c.*57T>A	NP_001307548.1:n.*57T>A
NM_152871.4:c.671T>A	NP_690610.1:p.Val224Asp
NM_152872.4:c.*46T>A	NP_690611.1:n.*46T>A
NR_028033.4:n.641T>A
NR_028034.4:n.503T>A
NR_028035.4:n.566T>A
NR_028036.4:n.704T>A
NR_135313.2:n.621T>A
NR_135314.2:n.900T>A
NR_135315.2:n.653T>A

Linked Data

Genomic Alleles

Transcript Alleles