Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95091265T>C , CM000676.2:g.95091265T>C	GRCh38
NC_000014.8:g.95557602T>C , CM000676.1:g.95557602T>C	GRCh37
NC_000014.7:g.94627355T>C	NCBI36
NG_016311.1:g.71158A>G , LRG_492:g.71158A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_177438.3:c.5465A>G MANE Select	NP_803187.1:p.Asp1822Gly
ENST00000343455.8:c.5465A>G MANE Select	ENSP00000343745.3:p.Asp1822Gly
NM_001195573.1:c.5365-156A>G	NP_001182502.1:n.5365-156A>G
NM_001271282.2:c.5465A>G	NP_001258211.1:p.Asp1822Gly
NM_001271282.3:c.5465A>G	NP_001258211.1:p.Asp1822Gly
NM_001291628.1:c.5465A>G	NP_001278557.1:p.Asp1822Gly
NM_001291628.2:c.5465A>G	NP_001278557.1:p.Asp1822Gly
NM_001395677.1:c.5465A>G	NP_001382606.1:p.Asp1822Gly
NM_001395678.1:c.5465A>G	NP_001382607.1:p.Asp1822Gly
NM_001395679.1:c.5465A>G	NP_001382608.1:p.Asp1822Gly
NM_001395680.1:c.5465A>G	NP_001382609.1:p.Asp1822Gly
NM_001395682.1:c.5465A>G	NP_001382611.1:p.Asp1822Gly
NM_001395683.1:c.5465A>G	NP_001382612.1:p.Asp1822Gly
NM_001395684.1:c.5465A>G	NP_001382613.1:p.Asp1822Gly
NM_001395685.1:c.5465A>G	NP_001382614.1:p.Asp1822Gly
NM_001395686.1:c.5183A>G	NP_001382615.1:p.Asp1728Gly
NM_001395687.1:c.5060A>G	NP_001382616.1:p.Asp1687Gly
NM_001395688.1:c.5060A>G	NP_001382617.1:p.Asp1687Gly
NM_001395689.1:c.5060A>G	NP_001382618.1:p.Asp1687Gly
NM_001395690.1:c.5060A>G	NP_001382619.1:p.Asp1687Gly
NM_001395691.1:c.4898A>G	NP_001382620.1:p.Asp1633Gly
NM_001395697.1:c.3782A>G	NP_001382626.1:p.Asp1261Gly
NM_030621.4:c.5465A>G	NP_085124.2:p.Asp1822Gly
NM_177438.2:c.5465A>G , LRG_492t1:c.5465A>G	NP_803187.1:p.Asp1822Gly
NR_172715.1:n.5883A>G
NR_172716.1:n.6067A>G
NR_172717.1:n.5977A>G
NR_172718.1:n.5900A>G
NR_172719.1:n.5733A>G
NR_172720.1:n.5936A>G
ENST00000343455.7:c.5465A>G	ENSP00000343745.3:p.Asp1822Gly
ENST00000393063.5:c.5465A>G	ENSP00000376783.1:p.Asp1822Gly
ENST00000393063.6:c.5465A>G	ENSP00000376783.1:p.Asp1822Gly
ENST00000526495.5:c.5465A>G	ENSP00000437256.1:p.Asp1822Gly
ENST00000526495.6:c.5465A>G	ENSP00000437256.1:p.Asp1822Gly
ENST00000527414.5:c.5465A>G	ENSP00000435681.1:p.Asp1822Gly
ENST00000527416.2:n.58A>G
ENST00000527554.2:n.158A>G
ENST00000529720.2:c.5465A>G	ENSP00000433926.2:p.Asp1822Gly
ENST00000531162.7:c.5465A>G	ENSP00000433060.3:p.Asp1822Gly
ENST00000541352.5:c.5365-156A>G	ENSP00000444719.1:n.5365-156A>G
ENST00000556045.5:c.2159A>G	ENSP00000451041.1:p.Asp720Gly
ENST00000556045.6:c.*182A>G	ENSP00000451041.2:n.*182A>G
ENST00000674628.2:c.5465A>G	ENSP00000502730.2:p.Asp1822Gly
ENST00000675540.1:c.3210A>G	ENSP00000501988.1:n.3210A>G
ENST00000675540.2:c.*2115A>G	ENSP00000501988.2:n.*2115A>G
ENST00000675995.1:c.*3781A>G	ENSP00000502591.1:n.*3781A>G
ENST00000696733.1:c.*87A>G	ENSP00000512838.1:n.*87A>G
ENST00000696734.1:c.*120A>G	ENSP00000512839.1:n.*120A>G
ENST00000696735.1:n.2452A>G
ENST00000696736.1:c.5465A>G	ENSP00000512840.1:p.Asp1822Gly
ENST00000696920.1:n.5728A>G
ENST00000696921.1:n.6571A>G
ENST00000696922.1:n.8396A>G
ENST00000696923.1:c.*120A>G	ENSP00000512976.1:n.*120A>G
ENST00000696924.1:c.*87A>G	ENSP00000512977.1:n.*87A>G
ENST00000696925.1:n.8396A>G
XM_011536599.1:c.5465A>G	XP_011534901.1:p.Asp1822Gly
XM_011536599.2:c.5465A>G	XP_011534901.1:p.Asp1822Gly
XM_011536600.1:c.5465A>G	XP_011534902.1:p.Asp1822Gly
XM_011536600.3:c.5465A>G	XP_011534902.1:p.Asp1822Gly
XM_011536601.1:c.5465A>G	XP_011534903.1:p.Asp1822Gly
XM_011536601.3:c.5465A>G	XP_011534903.1:p.Asp1822Gly
XM_011536602.1:c.5465A>G	XP_011534904.1:p.Asp1822Gly
XM_011536602.3:c.5465A>G	XP_011534904.1:p.Asp1822Gly
XM_011536603.1:c.5465A>G	XP_011534905.1:p.Asp1822Gly
XM_011536604.1:c.5060A>G	XP_011534906.1:p.Asp1687Gly
XM_011536604.2:c.5060A>G	XP_011534906.1:p.Asp1687Gly
XM_011536605.1:c.3986A>G	XP_011534907.1:p.Asp1329Gly
XM_011536605.2:c.3986A>G	XP_011534907.1:p.Asp1329Gly
XM_017021120.2:c.5465A>G	XP_016876609.1:p.Asp1822Gly
XM_017021121.2:c.5465A>G	XP_016876610.1:p.Asp1822Gly
XM_017021122.2:c.5060A>G	XP_016876611.1:p.Asp1687Gly
XM_017021123.2:c.5060A>G	XP_016876612.1:p.Asp1687Gly