Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014212C>A , CM000672.2:g.89014212C>A	GRCh38
NC_000010.10:g.90773969C>A , CM000672.1:g.90773969C>A	GRCh37
NC_000010.9:g.90763949C>A	NCBI36
NG_009089.2:g.28682C>A , LRG_134:g.28682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1079C>A
ENST00000355740.8:c.*93C>A	ENSP00000347979.3:n.*93C>A
ENST00000357339.7:c.707C>A	ENSP00000349896.2:p.Ala236Asp
ENST00000371857.8:n.2315C>A
ENST00000460510.6:c.53C>A	ENSP00000512812.1:p.Ala18Asp
ENST00000466081.6:n.2419C>A
ENST00000477270.6:c.815C>A	ENSP00000512813.1:p.Ala272Asp
ENST00000479522.6:c.*199C>A	ENSP00000424113.1:n.*199C>A
ENST00000484444.6:c.*211C>A	ENSP00000420975.1:n.*211C>A
ENST00000488877.6:c.661C>A	ENSP00000425159.1:n.661C>A
ENST00000492756.7:c.*199C>A	ENSP00000422453.1:n.*199C>A
ENST00000494799.6:c.53C>A	ENSP00000512834.1:p.Ala18Asp
ENST00000562983.3:c.53C>A	ENSP00000512845.1:p.Ala18Asp
ENST00000612663.6:c.*172C>A	ENSP00000477997.3:n.*172C>A
ENST00000640140.2:n.915C>A
ENST00000640250.2:n.269C>A
ENST00000640681.2:n.874C>A
ENST00000696723.1:n.4403C>A
ENST00000696741.1:n.2408C>A
ENST00000696742.1:n.2135C>A
ENST00000696743.1:n.3538C>A
ENST00000696744.1:n.809C>A
ENST00000696767.1:n.1104C>A
ENST00000696768.1:c.*93C>A	ENSP00000512859.1:n.*93C>A
ENST00000696769.1:n.2459C>A
ENST00000696771.1:c.53C>A	ENSP00000512860.1:p.Ala18Asp
ENST00000696772.1:n.2373C>A
ENST00000696773.1:n.2112C>A
ENST00000696774.1:n.5880C>A
ENST00000696776.1:c.863C>A	ENSP00000512861.1:p.Ala288Asp
ENST00000696777.1:n.2178C>A
ENST00000696778.1:n.1206C>A
ENST00000696779.1:c.377C>A	ENSP00000512862.1:p.Ala126Asp
ENST00000696780.1:c.800C>A	ENSP00000512863.1:p.Ala267Asp
ENST00000696781.1:c.515C>A	ENSP00000512864.1:p.Ala172Asp
ENST00000696782.1:c.*172C>A	ENSP00000512865.1:n.*172C>A
ENST00000696783.1:n.2638C>A
ENST00000696992.1:n.1887C>A
ENST00000696995.1:n.4299C>A
ENST00000696996.1:n.2212C>A
ENST00000696997.1:c.*400C>A	ENSP00000513028.1:n.*400C>A
ENST00000696998.1:n.2024C>A
ENST00000696999.1:c.53C>A	ENSP00000513029.1:p.Ala18Asp
ENST00000697035.1:c.*103C>A	ENSP00000513059.1:n.*103C>A
ENST00000697036.1:c.*186C>A	ENSP00000513060.1:n.*186C>A
ENST00000697037.1:n.805C>A
ENST00000697093.1:n.3006C>A
ENST00000697094.1:n.3353C>A
ENST00000697095.1:c.*1971C>A	ENSP00000513104.1:n.*1971C>A
ENST00000697096.1:n.1903C>A
ENST00000697097.1:c.53C>A	ENSP00000513105.1:p.Ala18Asp
ENST00000562983.2:n.956C>A
ENST00000690268.1:c.851C>A	ENSP00000509810.1:p.Ala284Asp
ENST00000355740.7:c.*96C>A	ENSP00000347979.3:n.*96C>A
ENST00000612663.5:c.*172C>A	ENSP00000477997.3:n.*172C>A
ENST00000640140.1:n.942C>A
ENST00000640250.1:n.269C>A
ENST00000640681.1:n.891C>A
ENST00000652046.1:c.770C>A MANE Select	ENSP00000498466.1:p.Ala257Asp
ENST00000352159.8:c.*87C>A	ENSP00000345601.4:n.*87C>A
ENST00000355279.2:c.745C>A	ENSP00000347426.2:n.745C>A
ENST00000355740.6:c.770C>A	ENSP00000347979.2:p.Ala257Asp
ENST00000357339.6:c.707C>A	ENSP00000349896.2:p.Ala236Asp
ENST00000479522.5:c.*199C>A	ENSP00000424113.1:n.*199C>A
ENST00000484444.5:c.*211C>A	ENSP00000420975.1:n.*211C>A
ENST00000488877.5:c.*211C>A	ENSP00000425159.1:n.*211C>A
ENST00000492756.5:c.598C>A	ENSP00000422453.1:n.598C>A
ENST00000494410.5:c.*128C>A	ENSP00000423755.1:n.*128C>A
ENST00000494799.5:n.677C>A
ENST00000612663.4:c.*117C>A	ENSP00000477997.2:n.*117C>A
NM_000043.4:c.770C>A , LRG_134t1:c.770C>A	NP_000034.1:p.Ala257Asp
NM_152871.2:c.707C>A	NP_690610.1:p.Ala236Asp
NM_152872.2:c.*82C>A	NP_690611.1:n.*82C>A
NR_028033.2:n.944C>A
NR_028034.2:n.806C>A
NR_028035.2:n.869C>A
NR_028036.2:n.1007C>A
XM_006717819.2:c.851C>A	XP_006717882.1:p.Ala284Asp
XM_011539764.1:c.932C>A	XP_011538066.1:p.Ala311Asp
XM_011539765.1:c.869C>A	XP_011538067.1:p.Ala290Asp
XM_011539766.1:c.851C>A	XP_011538068.1:p.Ala284Asp
XM_011539767.1:c.815C>A	XP_011538069.1:p.Ala272Asp
XR_945732.1:n.838C>A
XR_945733.1:n.775C>A
NM_000043.5:c.770C>A	NP_000034.1:p.Ala257Asp
NM_001320619.1:c.*93C>A	NP_001307548.1:n.*93C>A
NM_152871.3:c.707C>A	NP_690610.1:p.Ala236Asp
NM_152872.3:c.*82C>A	NP_690611.1:n.*82C>A
NR_028033.3:n.916C>A
NR_028034.3:n.778C>A
NR_028035.3:n.841C>A
NR_028036.3:n.979C>A
NR_135313.1:n.896C>A
NR_135314.1:n.1079C>A
NR_135315.1:n.832C>A
XM_006717819.3:c.851C>A	XP_006717882.1:p.Ala284Asp
XM_011539764.2:c.932C>A	XP_011538066.1:p.Ala311Asp
XM_011539765.2:c.869C>A	XP_011538067.1:p.Ala290Asp
XM_011539766.2:c.851C>A	XP_011538068.1:p.Ala284Asp
XM_011539767.3:c.815C>A	XP_011538069.1:p.Ala272Asp
XR_945732.3:n.838C>A
XR_945733.2:n.775C>A
NM_000043.6:c.770C>A MANE Select	NP_000034.1:p.Ala257Asp
NM_001320619.2:c.*93C>A	NP_001307548.1:n.*93C>A
NM_152871.4:c.707C>A	NP_690610.1:p.Ala236Asp
NM_152872.4:c.*82C>A	NP_690611.1:n.*82C>A
NR_028033.4:n.677C>A
NR_028034.4:n.539C>A
NR_028035.4:n.602C>A
NR_028036.4:n.740C>A
NR_135313.2:n.657C>A
NR_135314.2:n.936C>A
NR_135315.2:n.689C>A

Linked Data

Genomic Alleles

Transcript Alleles