Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809089T>C , CM000669.2:g.148809089T>C	GRCh38
NC_000007.13:g.148506181T>C , CM000669.1:g.148506181T>C	GRCh37
NC_000007.12:g.148137114T>C	NCBI36
NG_032043.1:g.80261A>G , LRG_531:g.80261A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004456.5:c.2177A>G MANE Select	NP_004447.2:p.Glu726Gly
ENST00000320356.7:c.2177A>G MANE Select	ENSP00000320147.2:p.Glu726Gly
NM_001203247.1:c.2162A>G	NP_001190176.1:p.Glu721Gly
NM_001203247.2:c.2162A>G	NP_001190176.1:p.Glu721Gly
NM_001203248.1:c.2135A>G	NP_001190177.1:p.Glu712Gly
NM_001203248.2:c.2135A>G	NP_001190177.1:p.Glu712Gly
NM_001203249.1:c.2009A>G	NP_001190178.1:p.Glu670Gly
NM_001203249.2:c.2009A>G	NP_001190178.1:p.Glu670Gly
NM_004456.4:c.2177A>G , LRG_531t1:c.2177A>G	NP_004447.2:p.Glu726Gly
NM_152998.2:c.2045A>G	NP_694543.1:p.Glu682Gly
NM_152998.3:c.2045A>G	NP_694543.1:p.Glu682Gly
ENST00000320356.6:c.2177A>G	ENSP00000320147.2:p.Glu726Gly
ENST00000350995.6:c.2045A>G	ENSP00000223193.2:p.Glu682Gly
ENST00000460911.5:c.2162A>G	ENSP00000419711.1:p.Glu721Gly
ENST00000476773.5:c.2009A>G	ENSP00000419050.1:p.Glu670Gly
ENST00000478654.5:c.2009A>G	ENSP00000417062.1:p.Glu670Gly
ENST00000483967.5:c.2135A>G	ENSP00000419856.1:p.Glu712Gly
ENST00000492143.5:c.*2167A>G	ENSP00000417377.1:n.*2167A>G
ENST00000682263.1:n.4077A>G
ENST00000682317.1:c.*1239A>G	ENSP00000508286.1:n.*1239A>G
ENST00000683292.1:c.*1073A>G	ENSP00000507503.1:n.*1073A>G
ENST00000683293.1:n.3896A>G
ENST00000683744.1:c.*1239A>G	ENSP00000506949.1:n.*1239A>G
ENST00000684300.1:c.*1239A>G	ENSP00000508407.1:n.*1239A>G
ENST00000684400.1:n.4164A>G
ENST00000684436.1:n.2493A>G
ENST00000684510.1:n.2555A>G
XM_005249962.3:c.2186A>G	XP_005250019.1:p.Glu729Gly
XM_005249962.4:c.2186A>G	XP_005250019.1:p.Glu729Gly
XM_005249963.3:c.2159A>G	XP_005250020.1:p.Glu720Gly
XM_005249963.4:c.2159A>G	XP_005250020.1:p.Glu720Gly
XM_005249964.3:c.2033A>G	XP_005250021.1:p.Glu678Gly
XM_005249964.4:c.2033A>G	XP_005250021.1:p.Glu678Gly
XM_011515883.1:c.2201A>G	XP_011514185.1:p.Glu734Gly
XM_011515883.2:c.2201A>G	XP_011514185.1:p.Glu734Gly
XM_011515884.1:c.2177A>G	XP_011514186.1:p.Glu726Gly
XM_011515884.2:c.2177A>G	XP_011514186.1:p.Glu726Gly
XM_011515885.1:c.2174A>G	XP_011514187.1:p.Glu725Gly
XM_011515885.2:c.2174A>G	XP_011514187.1:p.Glu725Gly
XM_011515886.1:c.2153A>G	XP_011514188.1:p.Glu718Gly
XM_011515886.2:c.2153A>G	XP_011514188.1:p.Glu718Gly
XM_011515887.1:c.2150A>G	XP_011514189.1:p.Glu717Gly
XM_011515887.3:c.2150A>G	XP_011514189.1:p.Glu717Gly
XM_011515888.1:c.2150A>G	XP_011514190.1:p.Glu717Gly
XM_011515888.2:c.2150A>G	XP_011514190.1:p.Glu717Gly
XM_011515889.1:c.2111A>G	XP_011514191.1:p.Glu704Gly
XM_011515889.2:c.2111A>G	XP_011514191.1:p.Glu704Gly
XM_011515890.1:c.2084A>G	XP_011514192.1:p.Glu695Gly
XM_011515890.2:c.2084A>G	XP_011514192.1:p.Glu695Gly
XM_011515891.1:c.2078A>G	XP_011514193.1:p.Glu693Gly
XM_011515891.3:c.2078A>G	XP_011514193.1:p.Glu693Gly
XM_011515892.1:c.2075A>G	XP_011514194.1:p.Glu692Gly
XM_011515892.2:c.2075A>G	XP_011514194.1:p.Glu692Gly
XM_011515893.1:c.2069A>G	XP_011514195.1:p.Glu690Gly
XM_011515893.2:c.2069A>G	XP_011514195.1:p.Glu690Gly
XM_011515894.1:c.2060A>G	XP_011514196.1:p.Glu687Gly
XM_011515894.2:c.2060A>G	XP_011514196.1:p.Glu687Gly
XM_011515895.1:c.2057A>G	XP_011514197.1:p.Glu686Gly
XM_011515895.2:c.2057A>G	XP_011514197.1:p.Glu686Gly
XM_011515896.1:c.1943A>G	XP_011514198.1:p.Glu648Gly
XM_011515896.2:c.1943A>G	XP_011514198.1:p.Glu648Gly
XM_011515897.1:c.1850A>G	XP_011514199.1:p.Glu617Gly
XM_011515897.2:c.1850A>G	XP_011514199.1:p.Glu617Gly
XM_011515898.1:c.1850A>G	XP_011514200.1:p.Glu617Gly
XM_011515898.2:c.1850A>G	XP_011514200.1:p.Glu617Gly
XM_017011817.2:c.2201A>G	XP_016867306.1:p.Glu734Gly
XM_017011818.1:c.2138A>G	XP_016867307.1:p.Glu713Gly
XM_017011819.1:c.2060A>G	XP_016867308.1:p.Glu687Gly
XM_017011820.2:c.2033A>G	XP_016867309.1:p.Glu678Gly
XM_017011821.1:c.1835A>G	XP_016867310.1:p.Glu612Gly
XM_024446680.1:c.2063A>G	XP_024302448.1:p.Glu688Gly
XR_001744581.1:n.4551A>G
XR_002956413.1:n.5207A>G
XR_002956414.1:n.5667A>G
XR_928101.1:n.515+4004T>C
XR_928102.1:n.722+4004T>C