Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89546737C>T , CM000678.2:g.89546737C>T	GRCh38
NC_000016.9:g.89613145C>T , CM000678.1:g.89613145C>T	GRCh37
NC_000016.8:g.88140646C>T	NCBI36
NG_008082.1:g.43341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1508C>T	ENSP00000268704.3:p.Ala503Val
ENST00000563218.6:n.588C>T
ENST00000566682.2:c.542C>T	ENSP00000461979.2:p.Ala181Val
ENST00000569820.6:c.515C>T
ENST00000642226.1:n.1378C>T
ENST00000642263.1:n.280C>T
ENST00000642334.1:c.2947C>T
ENST00000642427.1:n.929C>T
ENST00000642814.1:n.944C>T
ENST00000642984.1:n.1125C>T
ENST00000643105.1:c.2235C>T
ENST00000643350.1:n.586C>T
ENST00000643370.1:c.703C>T	ENSP00000494895.1:n.703C>T
ENST00000643409.1:n.1954C>T
ENST00000643496.1:n.1346C>T
ENST00000643649.1:c.1529C>T	ENSP00000494806.1:p.Ala510Val
ENST00000643668.1:c.*1823C>T	ENSP00000494903.1:n.*1823C>T
ENST00000643724.1:c.*577C>T	ENSP00000496335.1:n.*577C>T
ENST00000643734.1:n.4442C>T
ENST00000643954.1:c.2428C>T
ENST00000644061.1:n.487C>T
ENST00000644171.1:n.2289C>T
ENST00000644210.1:c.*101C>T	ENSP00000495675.1:n.*101C>T
ENST00000644225.1:n.1546C>T
ENST00000644464.1:n.182C>T
ENST00000644498.1:c.*1348C>T	ENSP00000496244.1:n.*1348C>T
ENST00000644556.1:n.261-1565C>T
ENST00000644671.1:c.1186C>T
ENST00000644748.1:n.4845C>T
ENST00000644751.1:c.851+1965C>T
ENST00000644781.1:c.1529C>T	ENSP00000495473.1:p.Ala510Val
ENST00000644901.1:c.*1923C>T	ENSP00000493797.1:n.*1923C>T
ENST00000644930.1:n.2655C>T
ENST00000645042.1:c.*303C>T	ENSP00000493908.1:n.*303C>T
ENST00000645063.1:c.1529C>T	ENSP00000493590.1:p.Ala510Val
ENST00000645354.1:c.2289C>T
ENST00000645392.1:n.1870C>T
ENST00000645742.1:n.163C>T
ENST00000645818.2:c.1529C>T MANE Select	ENSP00000495795.2:p.Ala510Val
ENST00000645842.1:n.1374C>T
ENST00000645886.1:c.1034C>T
ENST00000645897.1:c.1067C>T	ENSP00000495293.1:p.Ala356Val
ENST00000645944.1:n.1303C>T
ENST00000645952.1:n.1394C>T
ENST00000645977.1:n.2647C>T
ENST00000646005.1:n.1287C>T
ENST00000646263.1:c.*402C>T	ENSP00000494119.1:n.*402C>T
ENST00000646303.1:c.1397C>T	ENSP00000494160.1:p.Ala466Val
ENST00000646399.1:c.2423C>T
ENST00000646445.1:c.387C>T
ENST00000646454.1:n.790C>T
ENST00000646531.1:c.*152C>T	ENSP00000495185.1:n.*152C>T
ENST00000646543.1:n.2283C>T
ENST00000646589.1:c.*657C>T	ENSP00000494739.1:n.*657C>T
ENST00000646716.1:c.581C>T	ENSP00000495593.1:p.Ala194Val
ENST00000646826.1:c.*202C>T	ENSP00000495123.1:n.*202C>T
ENST00000646930.1:c.*1458C>T	ENSP00000495219.1:n.*1458C>T
ENST00000646958.1:n.2574C>T
ENST00000647032.1:c.1144C>T
ENST00000647079.1:c.1121C>T	ENSP00000495967.1:p.Ala374Val
ENST00000647123.1:n.1486C>T
ENST00000647227.1:c.1167C>T
ENST00000647302.1:n.2179C>T
ENST00000647491.1:n.1273C>T
ENST00000268704.6:c.1529C>T	ENSP00000268704.2:p.Ala510Val
ENST00000561911.5:c.74C>T	ENSP00000457387.1:p.Ala25Val
ENST00000563218.5:n.255C>T
ENST00000566221.5:c.127C>T
ENST00000569820.5:c.414C>T
ENST00000620811.4:c.-48C>T	ENSP00000478030.1:n.-48C>T
NM_003119.3:c.1529C>T	NP_003110.1:p.Ala510Val
XM_006721264.2:c.1529C>T	XP_006721327.1:p.Ala510Val
NM_001363850.1:c.1529C>T	NP_001350779.1:p.Ala510Val
XM_006721264.4:c.1529C>T	XP_006721327.1:p.Ala510Val
XM_017023597.1:c.1529C>T	XP_016879086.1:p.Ala510Val
XM_017023598.1:c.1529C>T	XP_016879087.1:p.Ala510Val
XR_001751971.2:n.1878C>T
XR_001751972.2:n.1878C>T
NM_003119.4:c.1529C>T MANE Select	NP_003110.1:p.Ala510Val

Linked Data

Genomic Alleles

Transcript Alleles