Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014162G>A , CM000672.2:g.89014162G>A	GRCh38
NC_000010.10:g.90773919G>A , CM000672.1:g.90773919G>A	GRCh37
NC_000010.9:g.90763899G>A	NCBI36
NG_009089.2:g.28632G>A , LRG_134:g.28632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1029G>A
ENST00000355740.8:c.*43G>A	ENSP00000347979.3:n.*43G>A
ENST00000357339.7:c.657G>A	ENSP00000349896.2:p.Met219Ile
ENST00000371857.8:n.2265G>A
ENST00000460510.6:c.3G>A	ENSP00000512812.1:p.Met1Ile
ENST00000466081.6:n.2369G>A
ENST00000477270.6:c.765G>A	ENSP00000512813.1:p.Met255Ile
ENST00000479522.6:c.*149G>A	ENSP00000424113.1:n.*149G>A
ENST00000484444.6:c.*161G>A	ENSP00000420975.1:n.*161G>A
ENST00000488877.6:c.611G>A	ENSP00000425159.1:n.611G>A
ENST00000492756.7:c.*149G>A	ENSP00000422453.1:n.*149G>A
ENST00000494799.6:c.3G>A	ENSP00000512834.1:p.Met1Ile
ENST00000562983.3:c.3G>A	ENSP00000512845.1:p.Met1Ile
ENST00000612663.6:c.*122G>A	ENSP00000477997.3:n.*122G>A
ENST00000640140.2:n.865G>A
ENST00000640250.2:n.219G>A
ENST00000640681.2:n.824G>A
ENST00000696723.1:n.4353G>A
ENST00000696741.1:n.2358G>A
ENST00000696742.1:n.2085G>A
ENST00000696743.1:n.3488G>A
ENST00000696744.1:n.759G>A
ENST00000696767.1:n.1054G>A
ENST00000696768.1:c.*43G>A	ENSP00000512859.1:n.*43G>A
ENST00000696769.1:n.2409G>A
ENST00000696771.1:c.3G>A	ENSP00000512860.1:p.Met1Ile
ENST00000696772.1:n.2323G>A
ENST00000696773.1:n.2062G>A
ENST00000696774.1:n.5830G>A
ENST00000696776.1:c.813G>A	ENSP00000512861.1:p.Met271Ile
ENST00000696777.1:n.2128G>A
ENST00000696778.1:n.1156G>A
ENST00000696779.1:c.327G>A	ENSP00000512862.1:p.Met109Ile
ENST00000696780.1:c.750G>A	ENSP00000512863.1:p.Met250Ile
ENST00000696781.1:c.465G>A	ENSP00000512864.1:p.Met155Ile
ENST00000696782.1:c.*122G>A	ENSP00000512865.1:n.*122G>A
ENST00000696783.1:n.2588G>A
ENST00000696992.1:n.1837G>A
ENST00000696995.1:n.4249G>A
ENST00000696996.1:n.2162G>A
ENST00000696997.1:c.*350G>A	ENSP00000513028.1:n.*350G>A
ENST00000696998.1:n.1974G>A
ENST00000696999.1:c.3G>A	ENSP00000513029.1:p.Met1Ile
ENST00000697035.1:c.*53G>A	ENSP00000513059.1:n.*53G>A
ENST00000697036.1:c.*136G>A	ENSP00000513060.1:n.*136G>A
ENST00000697037.1:n.755G>A
ENST00000697093.1:n.2956G>A
ENST00000697094.1:n.3303G>A
ENST00000697095.1:c.*1921G>A	ENSP00000513104.1:n.*1921G>A
ENST00000697096.1:n.1853G>A
ENST00000697097.1:c.3G>A	ENSP00000513105.1:p.Met1Ile
ENST00000562983.2:n.906G>A
ENST00000690268.1:c.801G>A	ENSP00000509810.1:p.Met267Ile
ENST00000355740.7:c.*46G>A	ENSP00000347979.3:n.*46G>A
ENST00000612663.5:c.*122G>A	ENSP00000477997.3:n.*122G>A
ENST00000640140.1:n.892G>A
ENST00000640250.1:n.219G>A
ENST00000640681.1:n.841G>A
ENST00000652046.1:c.720G>A MANE Select	ENSP00000498466.1:p.Met240Ile
ENST00000313771.9:n.1029G>A
ENST00000352159.8:c.*37G>A	ENSP00000345601.4:n.*37G>A
ENST00000355279.2:c.695G>A	ENSP00000347426.2:n.695G>A
ENST00000355740.6:c.720G>A	ENSP00000347979.2:p.Met240Ile
ENST00000357339.6:c.657G>A	ENSP00000349896.2:p.Met219Ile
ENST00000479522.5:c.*149G>A	ENSP00000424113.1:n.*149G>A
ENST00000484444.5:c.*161G>A	ENSP00000420975.1:n.*161G>A
ENST00000488877.5:c.*161G>A	ENSP00000425159.1:n.*161G>A
ENST00000492756.5:c.548G>A	ENSP00000422453.1:n.548G>A
ENST00000494410.5:c.*78G>A	ENSP00000423755.1:n.*78G>A
ENST00000494799.5:n.627G>A
ENST00000612663.4:c.*67G>A	ENSP00000477997.2:n.*67G>A
ENST00000615406.4:c.720G>A	ENSP00000484575.1:p.Met240Ile
ENST00000626542.2:c.718G>A	ENSP00000485876.1:p.Asp240Asn
NM_000043.4:c.720G>A , LRG_134t1:c.720G>A	NP_000034.1:p.Met240Ile
NM_152871.2:c.657G>A	NP_690610.1:p.Met219Ile
NM_152872.2:c.*32G>A	NP_690611.1:n.*32G>A
NR_028033.2:n.894G>A
NR_028034.2:n.756G>A
NR_028035.2:n.819G>A
NR_028036.2:n.957G>A
XM_006717819.2:c.801G>A	XP_006717882.1:p.Met267Ile
XM_011539764.1:c.882G>A	XP_011538066.1:p.Met294Ile
XM_011539765.1:c.819G>A	XP_011538067.1:p.Met273Ile
XM_011539766.1:c.801G>A	XP_011538068.1:p.Met267Ile
XM_011539767.1:c.765G>A	XP_011538069.1:p.Met255Ile
XR_945732.1:n.788G>A
XR_945733.1:n.725G>A
NM_000043.5:c.720G>A	NP_000034.1:p.Met240Ile
NM_001320619.1:c.*43G>A	NP_001307548.1:n.*43G>A
NM_152871.3:c.657G>A	NP_690610.1:p.Met219Ile
NM_152872.3:c.*32G>A	NP_690611.1:n.*32G>A
NR_028033.3:n.866G>A
NR_028034.3:n.728G>A
NR_028035.3:n.791G>A
NR_028036.3:n.929G>A
NR_135313.1:n.846G>A
NR_135314.1:n.1029G>A
NR_135315.1:n.782G>A
XM_006717819.3:c.801G>A	XP_006717882.1:p.Met267Ile
XM_011539764.2:c.882G>A	XP_011538066.1:p.Met294Ile
XM_011539765.2:c.819G>A	XP_011538067.1:p.Met273Ile
XM_011539766.2:c.801G>A	XP_011538068.1:p.Met267Ile
XM_011539767.3:c.765G>A	XP_011538069.1:p.Met255Ile
XR_945732.3:n.788G>A
XR_945733.2:n.725G>A
NM_000043.6:c.720G>A MANE Select	NP_000034.1:p.Met240Ile
NM_001320619.2:c.*43G>A	NP_001307548.1:n.*43G>A
NM_152871.4:c.657G>A	NP_690610.1:p.Met219Ile
NM_152872.4:c.*32G>A	NP_690611.1:n.*32G>A
NR_028033.4:n.627G>A
NR_028034.4:n.489G>A
NR_028035.4:n.552G>A
NR_028036.4:n.690G>A
NR_135313.2:n.607G>A
NR_135314.2:n.886G>A
NR_135315.2:n.639G>A

Linked Data

Genomic Alleles

Transcript Alleles