Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014184T>A , CM000672.2:g.89014184T>A	GRCh38
NC_000010.10:g.90773941T>A , CM000672.1:g.90773941T>A	GRCh37
NC_000010.9:g.90763921T>A	NCBI36
NG_009089.2:g.28654T>A , LRG_134:g.28654T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1051T>A
ENST00000355740.8:c.*65T>A	ENSP00000347979.3:n.*65T>A
ENST00000357339.7:c.679T>A	ENSP00000349896.2:p.Phe227Ile
ENST00000371857.8:n.2287T>A
ENST00000460510.6:c.25T>A	ENSP00000512812.1:p.Phe9Ile
ENST00000466081.6:n.2391T>A
ENST00000477270.6:c.787T>A	ENSP00000512813.1:p.Phe263Ile
ENST00000479522.6:c.*171T>A	ENSP00000424113.1:n.*171T>A
ENST00000484444.6:c.*183T>A	ENSP00000420975.1:n.*183T>A
ENST00000488877.6:c.633T>A	ENSP00000425159.1:n.633T>A
ENST00000492756.7:c.*171T>A	ENSP00000422453.1:n.*171T>A
ENST00000494799.6:c.25T>A	ENSP00000512834.1:p.Phe9Ile
ENST00000562983.3:c.25T>A	ENSP00000512845.1:p.Phe9Ile
ENST00000612663.6:c.*144T>A	ENSP00000477997.3:n.*144T>A
ENST00000640140.2:n.887T>A
ENST00000640250.2:n.241T>A
ENST00000640681.2:n.846T>A
ENST00000696723.1:n.4375T>A
ENST00000696741.1:n.2380T>A
ENST00000696742.1:n.2107T>A
ENST00000696743.1:n.3510T>A
ENST00000696744.1:n.781T>A
ENST00000696767.1:n.1076T>A
ENST00000696768.1:c.*65T>A	ENSP00000512859.1:n.*65T>A
ENST00000696769.1:n.2431T>A
ENST00000696771.1:c.25T>A	ENSP00000512860.1:p.Phe9Ile
ENST00000696772.1:n.2345T>A
ENST00000696773.1:n.2084T>A
ENST00000696774.1:n.5852T>A
ENST00000696776.1:c.835T>A	ENSP00000512861.1:p.Phe279Ile
ENST00000696777.1:n.2150T>A
ENST00000696778.1:n.1178T>A
ENST00000696779.1:c.349T>A	ENSP00000512862.1:p.Phe117Ile
ENST00000696780.1:c.772T>A	ENSP00000512863.1:p.Phe258Ile
ENST00000696781.1:c.487T>A	ENSP00000512864.1:p.Phe163Ile
ENST00000696782.1:c.*144T>A	ENSP00000512865.1:n.*144T>A
ENST00000696783.1:n.2610T>A
ENST00000696992.1:n.1859T>A
ENST00000696995.1:n.4271T>A
ENST00000696996.1:n.2184T>A
ENST00000696997.1:c.*372T>A	ENSP00000513028.1:n.*372T>A
ENST00000696998.1:n.1996T>A
ENST00000696999.1:c.25T>A	ENSP00000513029.1:p.Phe9Ile
ENST00000697035.1:c.*75T>A	ENSP00000513059.1:n.*75T>A
ENST00000697036.1:c.*158T>A	ENSP00000513060.1:n.*158T>A
ENST00000697037.1:n.777T>A
ENST00000697093.1:n.2978T>A
ENST00000697094.1:n.3325T>A
ENST00000697095.1:c.*1943T>A	ENSP00000513104.1:n.*1943T>A
ENST00000697096.1:n.1875T>A
ENST00000697097.1:c.25T>A	ENSP00000513105.1:p.Phe9Ile
ENST00000562983.2:n.928T>A
ENST00000690268.1:c.823T>A	ENSP00000509810.1:p.Phe275Ile
ENST00000355740.7:c.*68T>A	ENSP00000347979.3:n.*68T>A
ENST00000612663.5:c.*144T>A	ENSP00000477997.3:n.*144T>A
ENST00000640140.1:n.914T>A
ENST00000640250.1:n.241T>A
ENST00000640681.1:n.863T>A
ENST00000652046.1:c.742T>A MANE Select	ENSP00000498466.1:p.Phe248Ile
ENST00000352159.8:c.*59T>A	ENSP00000345601.4:n.*59T>A
ENST00000355279.2:c.717T>A	ENSP00000347426.2:n.717T>A
ENST00000355740.6:c.742T>A	ENSP00000347979.2:p.Phe248Ile
ENST00000357339.6:c.679T>A	ENSP00000349896.2:p.Phe227Ile
ENST00000479522.5:c.*171T>A	ENSP00000424113.1:n.*171T>A
ENST00000484444.5:c.*183T>A	ENSP00000420975.1:n.*183T>A
ENST00000488877.5:c.*183T>A	ENSP00000425159.1:n.*183T>A
ENST00000492756.5:c.570T>A	ENSP00000422453.1:n.570T>A
ENST00000494410.5:c.*100T>A	ENSP00000423755.1:n.*100T>A
ENST00000494799.5:n.649T>A
ENST00000612663.4:c.*89T>A	ENSP00000477997.2:n.*89T>A
ENST00000615406.4:c.742T>A	ENSP00000484575.1:p.Phe248Ile
NM_000043.4:c.742T>A , LRG_134t1:c.742T>A	NP_000034.1:p.Phe248Ile
NM_152871.2:c.679T>A	NP_690610.1:p.Phe227Ile
NM_152872.2:c.*54T>A	NP_690611.1:n.*54T>A
NR_028033.2:n.916T>A
NR_028034.2:n.778T>A
NR_028035.2:n.841T>A
NR_028036.2:n.979T>A
XM_006717819.2:c.823T>A	XP_006717882.1:p.Phe275Ile
XM_011539764.1:c.904T>A	XP_011538066.1:p.Phe302Ile
XM_011539765.1:c.841T>A	XP_011538067.1:p.Phe281Ile
XM_011539766.1:c.823T>A	XP_011538068.1:p.Phe275Ile
XM_011539767.1:c.787T>A	XP_011538069.1:p.Phe263Ile
XR_945732.1:n.810T>A
XR_945733.1:n.747T>A
NM_000043.5:c.742T>A	NP_000034.1:p.Phe248Ile
NM_001320619.1:c.*65T>A	NP_001307548.1:n.*65T>A
NM_152871.3:c.679T>A	NP_690610.1:p.Phe227Ile
NM_152872.3:c.*54T>A	NP_690611.1:n.*54T>A
NR_028033.3:n.888T>A
NR_028034.3:n.750T>A
NR_028035.3:n.813T>A
NR_028036.3:n.951T>A
NR_135313.1:n.868T>A
NR_135314.1:n.1051T>A
NR_135315.1:n.804T>A
XM_006717819.3:c.823T>A	XP_006717882.1:p.Phe275Ile
XM_011539764.2:c.904T>A	XP_011538066.1:p.Phe302Ile
XM_011539765.2:c.841T>A	XP_011538067.1:p.Phe281Ile
XM_011539766.2:c.823T>A	XP_011538068.1:p.Phe275Ile
XM_011539767.3:c.787T>A	XP_011538069.1:p.Phe263Ile
XR_945732.3:n.810T>A
XR_945733.2:n.747T>A
NM_000043.6:c.742T>A MANE Select	NP_000034.1:p.Phe248Ile
NM_001320619.2:c.*65T>A	NP_001307548.1:n.*65T>A
NM_152871.4:c.679T>A	NP_690610.1:p.Phe227Ile
NM_152872.4:c.*54T>A	NP_690611.1:n.*54T>A
NR_028033.4:n.649T>A
NR_028034.4:n.511T>A
NR_028035.4:n.574T>A
NR_028036.4:n.712T>A
NR_135313.2:n.629T>A
NR_135314.2:n.908T>A
NR_135315.2:n.661T>A

Linked Data

Genomic Alleles

Transcript Alleles