Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014693T>C , CM000672.2:g.89014693T>C	GRCh38
NC_000010.10:g.90774450T>C , CM000672.1:g.90774450T>C	GRCh37
NC_000010.9:g.90764430T>C	NCBI36
NG_009089.2:g.29163T>C , LRG_134:g.29163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1560T>C
ENST00000355740.8:c.*574T>C	ENSP00000347979.3:n.*574T>C
ENST00000357339.7:c.*243T>C	ENSP00000349896.2:n.*243T>C
ENST00000371857.8:n.2796T>C
ENST00000460510.6:c.*243T>C	ENSP00000512812.1:n.*243T>C
ENST00000466081.6:n.2900T>C
ENST00000477270.6:c.*243T>C	ENSP00000512813.1:n.*243T>C
ENST00000492756.7:c.*680T>C	ENSP00000422453.1:n.*680T>C
ENST00000494799.6:c.*243T>C	ENSP00000512834.1:n.*243T>C
ENST00000562983.3:c.*243T>C	ENSP00000512845.1:n.*243T>C
ENST00000612663.6:c.*653T>C	ENSP00000477997.3:n.*653T>C
ENST00000640140.2:n.1396T>C
ENST00000640250.2:n.750T>C
ENST00000640681.2:n.1355T>C
ENST00000696723.1:n.4884T>C
ENST00000696741.1:n.2889T>C
ENST00000696742.1:n.2616T>C
ENST00000696743.1:n.4019T>C
ENST00000696744.1:n.1290T>C
ENST00000696767.1:n.1585T>C
ENST00000696768.1:c.*574T>C	ENSP00000512859.1:n.*574T>C
ENST00000696771.1:c.*243T>C	ENSP00000512860.1:n.*243T>C
ENST00000696772.1:n.2854T>C
ENST00000696773.1:n.2593T>C
ENST00000696774.1:n.6361T>C
ENST00000696776.1:c.*243T>C	ENSP00000512861.1:n.*243T>C
ENST00000696777.1:n.2659T>C
ENST00000696778.1:n.1687T>C
ENST00000696779.1:c.*243T>C	ENSP00000512862.1:n.*243T>C
ENST00000696780.1:c.*243T>C	ENSP00000512863.1:n.*243T>C
ENST00000696781.1:c.*243T>C	ENSP00000512864.1:n.*243T>C
ENST00000696782.1:c.*653T>C	ENSP00000512865.1:n.*653T>C
ENST00000696783.1:n.3119T>C
ENST00000696992.1:n.2368T>C
ENST00000696995.1:n.4780T>C
ENST00000696996.1:n.2693T>C
ENST00000696997.1:c.*881T>C	ENSP00000513028.1:n.*881T>C
ENST00000696998.1:n.2505T>C
ENST00000696999.1:c.*243T>C	ENSP00000513029.1:n.*243T>C
ENST00000697036.1:c.*667T>C	ENSP00000513060.1:n.*667T>C
ENST00000697037.1:n.1286T>C
ENST00000697093.1:n.3487T>C
ENST00000697094.1:n.3834T>C
ENST00000697095.1:c.*2452T>C	ENSP00000513104.1:n.*2452T>C
ENST00000697096.1:n.2384T>C
ENST00000697097.1:c.*243T>C	ENSP00000513105.1:n.*243T>C
ENST00000562983.2:n.1437T>C
ENST00000690268.1:c.*243T>C	ENSP00000509810.1:n.*243T>C
ENST00000355740.7:c.*577T>C	ENSP00000347979.3:n.*577T>C
ENST00000640140.1:n.1423T>C
ENST00000640250.1:n.750T>C
ENST00000640681.1:n.1372T>C
ENST00000652046.1:c.*243T>C MANE Select	ENSP00000498466.1:n.*243T>C
ENST00000352159.8:c.*568T>C	ENSP00000345601.4:n.*568T>C
ENST00000355740.6:c.*243T>C	ENSP00000347979.2:n.*243T>C
NM_000043.4:c.243T>C , LRG_134t1:c.243T>C	NP_000034.1:n.*243T>C
NM_152871.2:c.*243T>C	NP_690610.1:n.*243T>C
NM_152872.2:c.*563T>C	NP_690611.1:n.*563T>C
NR_028033.2:n.1425T>C
NR_028034.2:n.1287T>C
NR_028035.2:n.1350T>C
NR_028036.2:n.1488T>C
XM_006717819.2:c.*243T>C	XP_006717882.1:n.*243T>C
XM_011539764.1:c.*243T>C	XP_011538066.1:n.*243T>C
XM_011539765.1:c.*243T>C	XP_011538067.1:n.*243T>C
XM_011539766.1:c.*243T>C	XP_011538068.1:n.*243T>C
XM_011539767.1:c.*243T>C	XP_011538069.1:n.*243T>C
NM_000043.5:c.*243T>C	NP_000034.1:n.*243T>C
NM_001320619.1:c.*574T>C	NP_001307548.1:n.*574T>C
NM_152871.3:c.*243T>C	NP_690610.1:n.*243T>C
NM_152872.3:c.*563T>C	NP_690611.1:n.*563T>C
NR_028033.3:n.1397T>C
NR_028034.3:n.1259T>C
NR_028035.3:n.1322T>C
NR_028036.3:n.1460T>C
NR_135313.1:n.1377T>C
NR_135314.1:n.1560T>C
NR_135315.1:n.1313T>C
XM_006717819.3:c.*243T>C	XP_006717882.1:n.*243T>C
XM_011539764.2:c.*243T>C	XP_011538066.1:n.*243T>C
XM_011539765.2:c.*243T>C	XP_011538067.1:n.*243T>C
XM_011539766.2:c.*243T>C	XP_011538068.1:n.*243T>C
XM_011539767.3:c.*243T>C	XP_011538069.1:n.*243T>C
XR_945732.3:n.1319T>C
XR_945733.2:n.1256T>C
NM_000043.6:c.*243T>C MANE Select	NP_000034.1:n.*243T>C
NM_001320619.2:c.*574T>C	NP_001307548.1:n.*574T>C
NM_152871.4:c.*243T>C	NP_690610.1:n.*243T>C
NM_152872.4:c.*563T>C	NP_690611.1:n.*563T>C
NR_028033.4:n.1158T>C
NR_028034.4:n.1020T>C
NR_028035.4:n.1083T>C
NR_028036.4:n.1221T>C
NR_135313.2:n.1138T>C
NR_135314.2:n.1417T>C
NR_135315.2:n.1170T>C

Linked Data

Genomic Alleles

Transcript Alleles