Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014126C>A , CM000672.2:g.89014126C>A	GRCh38
NC_000010.10:g.90773883C>A , CM000672.1:g.90773883C>A	GRCh37
NC_000010.9:g.90763863C>A	NCBI36
NG_009089.2:g.28596C>A , LRG_134:g.28596C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.993C>A
ENST00000355740.8:c.*7C>A	ENSP00000347979.3:n.*7C>A
ENST00000357339.7:c.621C>A	ENSP00000349896.2:p.Asp207Glu
ENST00000371857.8:n.2229C>A
ENST00000460510.6:c.-34C>A	ENSP00000512812.1:n.-34C>A
ENST00000466081.6:n.2333C>A
ENST00000477270.6:c.729C>A	ENSP00000512813.1:p.Asp243Glu
ENST00000479522.6:c.*113C>A	ENSP00000424113.1:n.*113C>A
ENST00000484444.6:c.*125C>A	ENSP00000420975.1:n.*125C>A
ENST00000488877.6:c.575C>A	ENSP00000425159.1:n.575C>A
ENST00000492756.7:c.*113C>A	ENSP00000422453.1:n.*113C>A
ENST00000494799.6:c.-34C>A	ENSP00000512834.1:n.-34C>A
ENST00000562983.3:c.-34C>A	ENSP00000512845.1:n.-34C>A
ENST00000612663.6:c.*86C>A	ENSP00000477997.3:n.*86C>A
ENST00000640140.2:n.829C>A
ENST00000640250.2:n.183C>A
ENST00000640681.2:n.788C>A
ENST00000696723.1:n.4317C>A
ENST00000696741.1:n.2322C>A
ENST00000696742.1:n.2049C>A
ENST00000696743.1:n.3452C>A
ENST00000696744.1:n.723C>A
ENST00000696767.1:n.1018C>A
ENST00000696768.1:c.*7C>A	ENSP00000512859.1:n.*7C>A
ENST00000696769.1:n.2373C>A
ENST00000696771.1:c.-34C>A	ENSP00000512860.1:n.-34C>A
ENST00000696772.1:n.2287C>A
ENST00000696773.1:n.2026C>A
ENST00000696774.1:n.5794C>A
ENST00000696776.1:c.777C>A	ENSP00000512861.1:p.Asp259Glu
ENST00000696777.1:n.2092C>A
ENST00000696778.1:n.1120C>A
ENST00000696779.1:c.291C>A	ENSP00000512862.1:p.Asp97Glu
ENST00000696780.1:c.714C>A	ENSP00000512863.1:p.Asp238Glu
ENST00000696781.1:c.429C>A	ENSP00000512864.1:p.Asp143Glu
ENST00000696782.1:c.*86C>A	ENSP00000512865.1:n.*86C>A
ENST00000696783.1:n.2552C>A
ENST00000696992.1:n.1801C>A
ENST00000696995.1:n.4213C>A
ENST00000696996.1:n.2126C>A
ENST00000696997.1:c.*314C>A	ENSP00000513028.1:n.*314C>A
ENST00000696998.1:n.1938C>A
ENST00000696999.1:c.-34C>A	ENSP00000513029.1:n.-34C>A
ENST00000697035.1:c.*17C>A	ENSP00000513059.1:n.*17C>A
ENST00000697036.1:c.*100C>A	ENSP00000513060.1:n.*100C>A
ENST00000697037.1:n.719C>A
ENST00000697093.1:n.2920C>A
ENST00000697094.1:n.3267C>A
ENST00000697095.1:c.*1885C>A	ENSP00000513104.1:n.*1885C>A
ENST00000697096.1:n.1817C>A
ENST00000697097.1:c.-34C>A	ENSP00000513105.1:n.-34C>A
ENST00000562983.2:n.870C>A
ENST00000690268.1:c.765C>A	ENSP00000509810.1:p.Asp255Glu
ENST00000355740.7:c.*10C>A	ENSP00000347979.3:n.*10C>A
ENST00000612663.5:c.*86C>A	ENSP00000477997.3:n.*86C>A
ENST00000640140.1:n.856C>A
ENST00000640250.1:n.183C>A
ENST00000640681.1:n.805C>A
ENST00000652046.1:c.684C>A MANE Select	ENSP00000498466.1:p.Asp228Glu
ENST00000313771.9:n.993C>A
ENST00000352159.8:c.*1C>A	ENSP00000345601.4:n.*1C>A
ENST00000355279.2:c.659C>A	ENSP00000347426.2:p.Thr220Asn
ENST00000355740.6:c.684C>A	ENSP00000347979.2:p.Asp228Glu
ENST00000357339.6:c.621C>A	ENSP00000349896.2:p.Asp207Glu
ENST00000479522.5:c.*113C>A	ENSP00000424113.1:n.*113C>A
ENST00000484444.5:c.*125C>A	ENSP00000420975.1:n.*125C>A
ENST00000488877.5:c.*125C>A	ENSP00000425159.1:n.*125C>A
ENST00000492756.5:c.512C>A	ENSP00000422453.1:n.512C>A
ENST00000494410.5:c.*42C>A	ENSP00000423755.1:n.*42C>A
ENST00000494799.5:n.591C>A
ENST00000612663.4:c.*31C>A	ENSP00000477997.2:n.*31C>A
ENST00000615406.4:c.684C>A	ENSP00000484575.1:p.Asp228Glu
ENST00000626542.2:c.684C>A	ENSP00000485876.1:p.Asp228Glu
NM_000043.4:c.684C>A , LRG_134t1:c.684C>A	NP_000034.1:p.Asp228Glu
NM_152871.2:c.621C>A	NP_690610.1:p.Asp207Glu
NM_152872.2:c.659C>A	NP_690611.1:p.Thr220Asn
NR_028033.2:n.858C>A
NR_028034.2:n.720C>A
NR_028035.2:n.783C>A
NR_028036.2:n.921C>A
XM_006717819.2:c.765C>A	XP_006717882.1:p.Asp255Glu
XM_011539764.1:c.846C>A	XP_011538066.1:p.Asp282Glu
XM_011539765.1:c.783C>A	XP_011538067.1:p.Asp261Glu
XM_011539766.1:c.765C>A	XP_011538068.1:p.Asp255Glu
XM_011539767.1:c.729C>A	XP_011538069.1:p.Asp243Glu
XR_945732.1:n.752C>A
XR_945733.1:n.689C>A
NM_000043.5:c.684C>A	NP_000034.1:p.Asp228Glu
NM_001320619.1:c.*7C>A	NP_001307548.1:n.*7C>A
NM_152871.3:c.621C>A	NP_690610.1:p.Asp207Glu
NM_152872.3:c.659C>A	NP_690611.1:p.Thr220Asn
NR_028033.3:n.830C>A
NR_028034.3:n.692C>A
NR_028035.3:n.755C>A
NR_028036.3:n.893C>A
NR_135313.1:n.810C>A
NR_135314.1:n.993C>A
NR_135315.1:n.746C>A
XM_006717819.3:c.765C>A	XP_006717882.1:p.Asp255Glu
XM_011539764.2:c.846C>A	XP_011538066.1:p.Asp282Glu
XM_011539765.2:c.783C>A	XP_011538067.1:p.Asp261Glu
XM_011539766.2:c.765C>A	XP_011538068.1:p.Asp255Glu
XM_011539767.3:c.729C>A	XP_011538069.1:p.Asp243Glu
XR_945732.3:n.752C>A
XR_945733.2:n.689C>A
NM_000043.6:c.684C>A MANE Select	NP_000034.1:p.Asp228Glu
NM_001320619.2:c.*7C>A	NP_001307548.1:n.*7C>A
NM_152871.4:c.621C>A	NP_690610.1:p.Asp207Glu
NM_152872.4:c.659C>A	NP_690611.1:p.Thr220Asn
NR_028033.4:n.591C>A
NR_028034.4:n.453C>A
NR_028035.4:n.516C>A
NR_028036.4:n.654C>A
NR_135313.2:n.571C>A
NR_135314.2:n.850C>A
NR_135315.2:n.603C>A

Linked Data

Genomic Alleles

Transcript Alleles