Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014166C>A , CM000672.2:g.89014166C>A	GRCh38
NC_000010.10:g.90773923C>A , CM000672.1:g.90773923C>A	GRCh37
NC_000010.9:g.90763903C>A	NCBI36
NG_009089.2:g.28636C>A , LRG_134:g.28636C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1033C>A
ENST00000355740.8:c.*47C>A	ENSP00000347979.3:n.*47C>A
ENST00000357339.7:c.661C>A	ENSP00000349896.2:p.Leu221Ile
ENST00000371857.8:n.2269C>A
ENST00000460510.6:c.7C>A	ENSP00000512812.1:p.Leu3Ile
ENST00000466081.6:n.2373C>A
ENST00000477270.6:c.769C>A	ENSP00000512813.1:p.Leu257Ile
ENST00000479522.6:c.*153C>A	ENSP00000424113.1:n.*153C>A
ENST00000484444.6:c.*165C>A	ENSP00000420975.1:n.*165C>A
ENST00000488877.6:c.615C>A	ENSP00000425159.1:n.615C>A
ENST00000492756.7:c.*153C>A	ENSP00000422453.1:n.*153C>A
ENST00000494799.6:c.7C>A	ENSP00000512834.1:p.Leu3Ile
ENST00000562983.3:c.7C>A	ENSP00000512845.1:p.Leu3Ile
ENST00000612663.6:c.*126C>A	ENSP00000477997.3:n.*126C>A
ENST00000640140.2:n.869C>A
ENST00000640250.2:n.223C>A
ENST00000640681.2:n.828C>A
ENST00000696723.1:n.4357C>A
ENST00000696741.1:n.2362C>A
ENST00000696742.1:n.2089C>A
ENST00000696743.1:n.3492C>A
ENST00000696744.1:n.763C>A
ENST00000696767.1:n.1058C>A
ENST00000696768.1:c.*47C>A	ENSP00000512859.1:n.*47C>A
ENST00000696769.1:n.2413C>A
ENST00000696771.1:c.7C>A	ENSP00000512860.1:p.Leu3Ile
ENST00000696772.1:n.2327C>A
ENST00000696773.1:n.2066C>A
ENST00000696774.1:n.5834C>A
ENST00000696776.1:c.817C>A	ENSP00000512861.1:p.Leu273Ile
ENST00000696777.1:n.2132C>A
ENST00000696778.1:n.1160C>A
ENST00000696779.1:c.331C>A	ENSP00000512862.1:p.Leu111Ile
ENST00000696780.1:c.754C>A	ENSP00000512863.1:p.Leu252Ile
ENST00000696781.1:c.469C>A	ENSP00000512864.1:p.Leu157Ile
ENST00000696782.1:c.*126C>A	ENSP00000512865.1:n.*126C>A
ENST00000696783.1:n.2592C>A
ENST00000696992.1:n.1841C>A
ENST00000696995.1:n.4253C>A
ENST00000696996.1:n.2166C>A
ENST00000696997.1:c.*354C>A	ENSP00000513028.1:n.*354C>A
ENST00000696998.1:n.1978C>A
ENST00000696999.1:c.7C>A	ENSP00000513029.1:p.Leu3Ile
ENST00000697035.1:c.*57C>A	ENSP00000513059.1:n.*57C>A
ENST00000697036.1:c.*140C>A	ENSP00000513060.1:n.*140C>A
ENST00000697037.1:n.759C>A
ENST00000697093.1:n.2960C>A
ENST00000697094.1:n.3307C>A
ENST00000697095.1:c.*1925C>A	ENSP00000513104.1:n.*1925C>A
ENST00000697096.1:n.1857C>A
ENST00000697097.1:c.7C>A	ENSP00000513105.1:p.Leu3Ile
ENST00000562983.2:n.910C>A
ENST00000690268.1:c.805C>A	ENSP00000509810.1:p.Leu269Ile
ENST00000355740.7:c.*50C>A	ENSP00000347979.3:n.*50C>A
ENST00000612663.5:c.*126C>A	ENSP00000477997.3:n.*126C>A
ENST00000640140.1:n.896C>A
ENST00000640250.1:n.223C>A
ENST00000640681.1:n.845C>A
ENST00000652046.1:c.724C>A MANE Select	ENSP00000498466.1:p.Leu242Ile
ENST00000313771.9:n.1033C>A
ENST00000352159.8:c.*41C>A	ENSP00000345601.4:n.*41C>A
ENST00000355279.2:c.699C>A	ENSP00000347426.2:n.699C>A
ENST00000355740.6:c.724C>A	ENSP00000347979.2:p.Leu242Ile
ENST00000357339.6:c.661C>A	ENSP00000349896.2:p.Leu221Ile
ENST00000479522.5:c.*153C>A	ENSP00000424113.1:n.*153C>A
ENST00000484444.5:c.*165C>A	ENSP00000420975.1:n.*165C>A
ENST00000488877.5:c.*165C>A	ENSP00000425159.1:n.*165C>A
ENST00000492756.5:c.552C>A	ENSP00000422453.1:n.552C>A
ENST00000494410.5:c.*82C>A	ENSP00000423755.1:n.*82C>A
ENST00000494799.5:n.631C>A
ENST00000612663.4:c.*71C>A	ENSP00000477997.2:n.*71C>A
ENST00000615406.4:c.724C>A	ENSP00000484575.1:p.Leu242Ile
ENST00000626542.2:c.722C>A	ENSP00000485876.1:p.Thr241Asn
NM_000043.4:c.724C>A , LRG_134t1:c.724C>A	NP_000034.1:p.Leu242Ile
NM_152871.2:c.661C>A	NP_690610.1:p.Leu221Ile
NM_152872.2:c.*36C>A	NP_690611.1:n.*36C>A
NR_028033.2:n.898C>A
NR_028034.2:n.760C>A
NR_028035.2:n.823C>A
NR_028036.2:n.961C>A
XM_006717819.2:c.805C>A	XP_006717882.1:p.Leu269Ile
XM_011539764.1:c.886C>A	XP_011538066.1:p.Leu296Ile
XM_011539765.1:c.823C>A	XP_011538067.1:p.Leu275Ile
XM_011539766.1:c.805C>A	XP_011538068.1:p.Leu269Ile
XM_011539767.1:c.769C>A	XP_011538069.1:p.Leu257Ile
XR_945732.1:n.792C>A
XR_945733.1:n.729C>A
NM_000043.5:c.724C>A	NP_000034.1:p.Leu242Ile
NM_001320619.1:c.*47C>A	NP_001307548.1:n.*47C>A
NM_152871.3:c.661C>A	NP_690610.1:p.Leu221Ile
NM_152872.3:c.*36C>A	NP_690611.1:n.*36C>A
NR_028033.3:n.870C>A
NR_028034.3:n.732C>A
NR_028035.3:n.795C>A
NR_028036.3:n.933C>A
NR_135313.1:n.850C>A
NR_135314.1:n.1033C>A
NR_135315.1:n.786C>A
XM_006717819.3:c.805C>A	XP_006717882.1:p.Leu269Ile
XM_011539764.2:c.886C>A	XP_011538066.1:p.Leu296Ile
XM_011539765.2:c.823C>A	XP_011538067.1:p.Leu275Ile
XM_011539766.2:c.805C>A	XP_011538068.1:p.Leu269Ile
XM_011539767.3:c.769C>A	XP_011538069.1:p.Leu257Ile
XR_945732.3:n.792C>A
XR_945733.2:n.729C>A
NM_000043.6:c.724C>A MANE Select	NP_000034.1:p.Leu242Ile
NM_001320619.2:c.*47C>A	NP_001307548.1:n.*47C>A
NM_152871.4:c.661C>A	NP_690610.1:p.Leu221Ile
NM_152872.4:c.*36C>A	NP_690611.1:n.*36C>A
NR_028033.4:n.631C>A
NR_028034.4:n.493C>A
NR_028035.4:n.556C>A
NR_028036.4:n.694C>A
NR_135313.2:n.611C>A
NR_135314.2:n.890C>A
NR_135315.2:n.643C>A

Linked Data

Genomic Alleles

Transcript Alleles