Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014259C>A , CM000672.2:g.89014259C>A	GRCh38
NC_000010.10:g.90774016C>A , CM000672.1:g.90774016C>A	GRCh37
NC_000010.9:g.90763996C>A	NCBI36
NG_009089.2:g.28729C>A , LRG_134:g.28729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1126C>A
ENST00000355740.8:c.*140C>A	ENSP00000347979.3:n.*140C>A
ENST00000357339.7:c.754C>A	ENSP00000349896.2:p.Gln252Lys
ENST00000371857.8:n.2362C>A
ENST00000460510.6:c.100C>A	ENSP00000512812.1:p.Gln34Lys
ENST00000466081.6:n.2466C>A
ENST00000477270.6:c.862C>A	ENSP00000512813.1:p.Gln288Lys
ENST00000479522.6:c.*246C>A	ENSP00000424113.1:n.*246C>A
ENST00000484444.6:c.*258C>A	ENSP00000420975.1:n.*258C>A
ENST00000488877.6:c.708C>A	ENSP00000425159.1:n.708C>A
ENST00000492756.7:c.*246C>A	ENSP00000422453.1:n.*246C>A
ENST00000494799.6:c.100C>A	ENSP00000512834.1:p.Gln34Lys
ENST00000562983.3:c.100C>A	ENSP00000512845.1:p.Gln34Lys
ENST00000612663.6:c.*219C>A	ENSP00000477997.3:n.*219C>A
ENST00000640140.2:n.962C>A
ENST00000640250.2:n.316C>A
ENST00000640681.2:n.921C>A
ENST00000696723.1:n.4450C>A
ENST00000696741.1:n.2455C>A
ENST00000696742.1:n.2182C>A
ENST00000696743.1:n.3585C>A
ENST00000696744.1:n.856C>A
ENST00000696767.1:n.1151C>A
ENST00000696768.1:c.*140C>A	ENSP00000512859.1:n.*140C>A
ENST00000696769.1:n.2506C>A
ENST00000696771.1:c.100C>A	ENSP00000512860.1:p.Gln34Lys
ENST00000696772.1:n.2420C>A
ENST00000696773.1:n.2159C>A
ENST00000696774.1:n.5927C>A
ENST00000696776.1:c.910C>A	ENSP00000512861.1:p.Gln304Lys
ENST00000696777.1:n.2225C>A
ENST00000696778.1:n.1253C>A
ENST00000696779.1:c.424C>A	ENSP00000512862.1:p.Gln142Lys
ENST00000696780.1:c.847C>A	ENSP00000512863.1:p.Gln283Lys
ENST00000696781.1:c.562C>A	ENSP00000512864.1:p.Gln188Lys
ENST00000696782.1:c.*219C>A	ENSP00000512865.1:n.*219C>A
ENST00000696783.1:n.2685C>A
ENST00000696992.1:n.1934C>A
ENST00000696995.1:n.4346C>A
ENST00000696996.1:n.2259C>A
ENST00000696997.1:c.*447C>A	ENSP00000513028.1:n.*447C>A
ENST00000696998.1:n.2071C>A
ENST00000696999.1:c.100C>A	ENSP00000513029.1:p.Gln34Lys
ENST00000697035.1:c.*150C>A	ENSP00000513059.1:n.*150C>A
ENST00000697036.1:c.*233C>A	ENSP00000513060.1:n.*233C>A
ENST00000697037.1:n.852C>A
ENST00000697093.1:n.3053C>A
ENST00000697094.1:n.3400C>A
ENST00000697095.1:c.*2018C>A	ENSP00000513104.1:n.*2018C>A
ENST00000697096.1:n.1950C>A
ENST00000697097.1:c.100C>A	ENSP00000513105.1:p.Gln34Lys
ENST00000562983.2:n.1003C>A
ENST00000690268.1:c.898C>A	ENSP00000509810.1:p.Gln300Lys
ENST00000355740.7:c.*143C>A	ENSP00000347979.3:n.*143C>A
ENST00000612663.5:c.*219C>A	ENSP00000477997.3:n.*219C>A
ENST00000640140.1:n.989C>A
ENST00000640250.1:n.316C>A
ENST00000640681.1:n.938C>A
ENST00000652046.1:c.817C>A MANE Select	ENSP00000498466.1:p.Gln273Lys
ENST00000352159.8:c.*134C>A	ENSP00000345601.4:n.*134C>A
ENST00000355279.2:c.792C>A	ENSP00000347426.2:n.792C>A
ENST00000355740.6:c.817C>A	ENSP00000347979.2:p.Gln273Lys
ENST00000357339.6:c.754C>A	ENSP00000349896.2:p.Gln252Lys
ENST00000479522.5:c.*246C>A	ENSP00000424113.1:n.*246C>A
ENST00000484444.5:c.*258C>A	ENSP00000420975.1:n.*258C>A
ENST00000488877.5:c.*258C>A	ENSP00000425159.1:n.*258C>A
ENST00000492756.5:c.645C>A	ENSP00000422453.1:n.645C>A
ENST00000494410.5:c.*175C>A	ENSP00000423755.1:n.*175C>A
ENST00000612663.4:c.*164C>A	ENSP00000477997.2:n.*164C>A
NM_000043.4:c.817C>A , LRG_134t1:c.817C>A	NP_000034.1:p.Gln273Lys
NM_152871.2:c.754C>A	NP_690610.1:p.Gln252Lys
NM_152872.2:c.*129C>A	NP_690611.1:n.*129C>A
NR_028033.2:n.991C>A
NR_028034.2:n.853C>A
NR_028035.2:n.916C>A
NR_028036.2:n.1054C>A
XM_006717819.2:c.898C>A	XP_006717882.1:p.Gln300Lys
XM_011539764.1:c.979C>A	XP_011538066.1:p.Gln327Lys
XM_011539765.1:c.916C>A	XP_011538067.1:p.Gln306Lys
XM_011539766.1:c.898C>A	XP_011538068.1:p.Gln300Lys
XM_011539767.1:c.862C>A	XP_011538069.1:p.Gln288Lys
XR_945732.1:n.885C>A
XR_945733.1:n.822C>A
NM_000043.5:c.817C>A	NP_000034.1:p.Gln273Lys
NM_001320619.1:c.*140C>A	NP_001307548.1:n.*140C>A
NM_152871.3:c.754C>A	NP_690610.1:p.Gln252Lys
NM_152872.3:c.*129C>A	NP_690611.1:n.*129C>A
NR_028033.3:n.963C>A
NR_028034.3:n.825C>A
NR_028035.3:n.888C>A
NR_028036.3:n.1026C>A
NR_135313.1:n.943C>A
NR_135314.1:n.1126C>A
NR_135315.1:n.879C>A
XM_006717819.3:c.898C>A	XP_006717882.1:p.Gln300Lys
XM_011539764.2:c.979C>A	XP_011538066.1:p.Gln327Lys
XM_011539765.2:c.916C>A	XP_011538067.1:p.Gln306Lys
XM_011539766.2:c.898C>A	XP_011538068.1:p.Gln300Lys
XM_011539767.3:c.862C>A	XP_011538069.1:p.Gln288Lys
XR_945732.3:n.885C>A
XR_945733.2:n.822C>A
NM_000043.6:c.817C>A MANE Select	NP_000034.1:p.Gln273Lys
NM_001320619.2:c.*140C>A	NP_001307548.1:n.*140C>A
NM_152871.4:c.754C>A	NP_690610.1:p.Gln252Lys
NM_152872.4:c.*129C>A	NP_690611.1:n.*129C>A
NR_028033.4:n.724C>A
NR_028034.4:n.586C>A
NR_028035.4:n.649C>A
NR_028036.4:n.787C>A
NR_135313.2:n.704C>A
NR_135314.2:n.983C>A
NR_135315.2:n.736C>A

Linked Data

Genomic Alleles

Transcript Alleles