Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014161T>A , CM000672.2:g.89014161T>A	GRCh38
NC_000010.10:g.90773918T>A , CM000672.1:g.90773918T>A	GRCh37
NC_000010.9:g.90763898T>A	NCBI36
NG_009089.2:g.28631T>A , LRG_134:g.28631T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1028T>A
ENST00000355740.8:c.*42T>A	ENSP00000347979.3:n.*42T>A
ENST00000357339.7:c.656T>A	ENSP00000349896.2:p.Met219Lys
ENST00000371857.8:n.2264T>A
ENST00000460510.6:c.2T>A	ENSP00000512812.1:p.Met1Lys
ENST00000466081.6:n.2368T>A
ENST00000477270.6:c.764T>A	ENSP00000512813.1:p.Met255Lys
ENST00000479522.6:c.*148T>A	ENSP00000424113.1:n.*148T>A
ENST00000484444.6:c.*160T>A	ENSP00000420975.1:n.*160T>A
ENST00000488877.6:c.610T>A	ENSP00000425159.1:n.610T>A
ENST00000492756.7:c.*148T>A	ENSP00000422453.1:n.*148T>A
ENST00000494799.6:c.2T>A	ENSP00000512834.1:p.Met1Lys
ENST00000562983.3:c.2T>A	ENSP00000512845.1:p.Met1Lys
ENST00000612663.6:c.*121T>A	ENSP00000477997.3:n.*121T>A
ENST00000640140.2:n.864T>A
ENST00000640250.2:n.218T>A
ENST00000640681.2:n.823T>A
ENST00000696723.1:n.4352T>A
ENST00000696741.1:n.2357T>A
ENST00000696742.1:n.2084T>A
ENST00000696743.1:n.3487T>A
ENST00000696744.1:n.758T>A
ENST00000696767.1:n.1053T>A
ENST00000696768.1:c.*42T>A	ENSP00000512859.1:n.*42T>A
ENST00000696769.1:n.2408T>A
ENST00000696771.1:c.2T>A	ENSP00000512860.1:p.Met1Lys
ENST00000696772.1:n.2322T>A
ENST00000696773.1:n.2061T>A
ENST00000696774.1:n.5829T>A
ENST00000696776.1:c.812T>A	ENSP00000512861.1:p.Met271Lys
ENST00000696777.1:n.2127T>A
ENST00000696778.1:n.1155T>A
ENST00000696779.1:c.326T>A	ENSP00000512862.1:p.Met109Lys
ENST00000696780.1:c.749T>A	ENSP00000512863.1:p.Met250Lys
ENST00000696781.1:c.464T>A	ENSP00000512864.1:p.Met155Lys
ENST00000696782.1:c.*121T>A	ENSP00000512865.1:n.*121T>A
ENST00000696783.1:n.2587T>A
ENST00000696992.1:n.1836T>A
ENST00000696995.1:n.4248T>A
ENST00000696996.1:n.2161T>A
ENST00000696997.1:c.*349T>A	ENSP00000513028.1:n.*349T>A
ENST00000696998.1:n.1973T>A
ENST00000696999.1:c.2T>A	ENSP00000513029.1:p.Met1Lys
ENST00000697035.1:c.*52T>A	ENSP00000513059.1:n.*52T>A
ENST00000697036.1:c.*135T>A	ENSP00000513060.1:n.*135T>A
ENST00000697037.1:n.754T>A
ENST00000697093.1:n.2955T>A
ENST00000697094.1:n.3302T>A
ENST00000697095.1:c.*1920T>A	ENSP00000513104.1:n.*1920T>A
ENST00000697096.1:n.1852T>A
ENST00000697097.1:c.2T>A	ENSP00000513105.1:p.Met1Lys
ENST00000562983.2:n.905T>A
ENST00000690268.1:c.800T>A	ENSP00000509810.1:p.Met267Lys
ENST00000355740.7:c.*45T>A	ENSP00000347979.3:n.*45T>A
ENST00000612663.5:c.*121T>A	ENSP00000477997.3:n.*121T>A
ENST00000640140.1:n.891T>A
ENST00000640250.1:n.218T>A
ENST00000640681.1:n.840T>A
ENST00000652046.1:c.719T>A MANE Select	ENSP00000498466.1:p.Met240Lys
ENST00000313771.9:n.1028T>A
ENST00000352159.8:c.*36T>A	ENSP00000345601.4:n.*36T>A
ENST00000355279.2:c.694T>A	ENSP00000347426.2:n.694T>A
ENST00000355740.6:c.719T>A	ENSP00000347979.2:p.Met240Lys
ENST00000357339.6:c.656T>A	ENSP00000349896.2:p.Met219Lys
ENST00000479522.5:c.*148T>A	ENSP00000424113.1:n.*148T>A
ENST00000484444.5:c.*160T>A	ENSP00000420975.1:n.*160T>A
ENST00000488877.5:c.*160T>A	ENSP00000425159.1:n.*160T>A
ENST00000492756.5:c.547T>A	ENSP00000422453.1:n.547T>A
ENST00000494410.5:c.*77T>A	ENSP00000423755.1:n.*77T>A
ENST00000494799.5:n.626T>A
ENST00000612663.4:c.*66T>A	ENSP00000477997.2:n.*66T>A
ENST00000615406.4:c.719T>A	ENSP00000484575.1:p.Met240Lys
ENST00000626542.2:c.717T>A	ENSP00000485876.1:p.His239Gln
NM_000043.4:c.719T>A , LRG_134t1:c.719T>A	NP_000034.1:p.Met240Lys
NM_152871.2:c.656T>A	NP_690610.1:p.Met219Lys
NM_152872.2:c.*31T>A	NP_690611.1:n.*31T>A
NR_028033.2:n.893T>A
NR_028034.2:n.755T>A
NR_028035.2:n.818T>A
NR_028036.2:n.956T>A
XM_006717819.2:c.800T>A	XP_006717882.1:p.Met267Lys
XM_011539764.1:c.881T>A	XP_011538066.1:p.Met294Lys
XM_011539765.1:c.818T>A	XP_011538067.1:p.Met273Lys
XM_011539766.1:c.800T>A	XP_011538068.1:p.Met267Lys
XM_011539767.1:c.764T>A	XP_011538069.1:p.Met255Lys
XR_945732.1:n.787T>A
XR_945733.1:n.724T>A
NM_000043.5:c.719T>A	NP_000034.1:p.Met240Lys
NM_001320619.1:c.*42T>A	NP_001307548.1:n.*42T>A
NM_152871.3:c.656T>A	NP_690610.1:p.Met219Lys
NM_152872.3:c.*31T>A	NP_690611.1:n.*31T>A
NR_028033.3:n.865T>A
NR_028034.3:n.727T>A
NR_028035.3:n.790T>A
NR_028036.3:n.928T>A
NR_135313.1:n.845T>A
NR_135314.1:n.1028T>A
NR_135315.1:n.781T>A
XM_006717819.3:c.800T>A	XP_006717882.1:p.Met267Lys
XM_011539764.2:c.881T>A	XP_011538066.1:p.Met294Lys
XM_011539765.2:c.818T>A	XP_011538067.1:p.Met273Lys
XM_011539766.2:c.800T>A	XP_011538068.1:p.Met267Lys
XM_011539767.3:c.764T>A	XP_011538069.1:p.Met255Lys
XR_945732.3:n.787T>A
XR_945733.2:n.724T>A
NM_000043.6:c.719T>A MANE Select	NP_000034.1:p.Met240Lys
NM_001320619.2:c.*42T>A	NP_001307548.1:n.*42T>A
NM_152871.4:c.656T>A	NP_690610.1:p.Met219Lys
NM_152872.4:c.*31T>A	NP_690611.1:n.*31T>A
NR_028033.4:n.626T>A
NR_028034.4:n.488T>A
NR_028035.4:n.551T>A
NR_028036.4:n.689T>A
NR_135313.2:n.606T>A
NR_135314.2:n.885T>A
NR_135315.2:n.638T>A

Linked Data

Genomic Alleles

Transcript Alleles