Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95099787T>C , CM000676.2:g.95099787T>C	GRCh38
NC_000014.8:g.95566124T>C , CM000676.1:g.95566124T>C	GRCh37
NC_000014.7:g.94635877T>C	NCBI36
NG_016311.1:g.62636A>G , LRG_492:g.62636A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_177438.3:c.4199A>G MANE Select	NP_803187.1:p.Asp1400Gly
ENST00000343455.8:c.4199A>G MANE Select	ENSP00000343745.3:p.Asp1400Gly
NM_001195573.1:c.4199A>G	NP_001182502.1:p.Asp1400Gly
NM_001271282.2:c.4199A>G	NP_001258211.1:p.Asp1400Gly
NM_001271282.3:c.4199A>G	NP_001258211.1:p.Asp1400Gly
NM_001291628.1:c.4199A>G	NP_001278557.1:p.Asp1400Gly
NM_001291628.2:c.4199A>G	NP_001278557.1:p.Asp1400Gly
NM_001395677.1:c.4199A>G	NP_001382606.1:p.Asp1400Gly
NM_001395678.1:c.4199A>G	NP_001382607.1:p.Asp1400Gly
NM_001395679.1:c.4199A>G	NP_001382608.1:p.Asp1400Gly
NM_001395680.1:c.4199A>G	NP_001382609.1:p.Asp1400Gly
NM_001395682.1:c.4199A>G	NP_001382611.1:p.Asp1400Gly
NM_001395683.1:c.4199A>G	NP_001382612.1:p.Asp1400Gly
NM_001395684.1:c.4199A>G	NP_001382613.1:p.Asp1400Gly
NM_001395685.1:c.4199A>G	NP_001382614.1:p.Asp1400Gly
NM_001395686.1:c.3917A>G	NP_001382615.1:p.Asp1306Gly
NM_001395687.1:c.3794A>G	NP_001382616.1:p.Asp1265Gly
NM_001395688.1:c.3794A>G	NP_001382617.1:p.Asp1265Gly
NM_001395689.1:c.3794A>G	NP_001382618.1:p.Asp1265Gly
NM_001395690.1:c.3794A>G	NP_001382619.1:p.Asp1265Gly
NM_001395691.1:c.3632A>G	NP_001382620.1:p.Asp1211Gly
NM_001395692.1:c.4199A>G	NP_001382621.1:p.Asp1400Gly
NM_001395693.1:c.4199A>G	NP_001382622.1:p.Asp1400Gly
NM_001395694.1:c.4199A>G	NP_001382623.1:p.Asp1400Gly
NM_001395695.1:c.4199A>G	NP_001382624.1:p.Asp1400Gly
NM_001395696.1:c.3794A>G	NP_001382625.1:p.Asp1265Gly
NM_001395697.1:c.2516A>G	NP_001382626.1:p.Asp839Gly
NM_030621.4:c.4199A>G	NP_085124.2:p.Asp1400Gly
NM_177438.2:c.4199A>G , LRG_492t1:c.4199A>G	NP_803187.1:p.Asp1400Gly
NR_172715.1:n.4617A>G
NR_172716.1:n.4801A>G
NR_172717.1:n.4711A>G
NR_172718.1:n.4634A>G
NR_172719.1:n.4467A>G
NR_172720.1:n.4544A>G
ENST00000343455.7:c.4199A>G	ENSP00000343745.3:p.Asp1400Gly
ENST00000393063.5:c.4199A>G	ENSP00000376783.1:p.Asp1400Gly
ENST00000393063.6:c.4199A>G	ENSP00000376783.1:p.Asp1400Gly
ENST00000526495.5:c.4199A>G	ENSP00000437256.1:p.Asp1400Gly
ENST00000526495.6:c.4199A>G	ENSP00000437256.1:p.Asp1400Gly
ENST00000527414.5:c.4199A>G	ENSP00000435681.1:p.Asp1400Gly
ENST00000529720.2:c.4199A>G	ENSP00000433926.2:p.Asp1400Gly
ENST00000531162.7:c.4199A>G	ENSP00000433060.3:p.Asp1400Gly
ENST00000532939.2:c.234A>G
ENST00000532939.3:c.4199A>G	ENSP00000452556.2:p.Asp1400Gly
ENST00000541352.5:c.4199A>G	ENSP00000444719.1:p.Asp1400Gly
ENST00000556045.5:c.893A>G	ENSP00000451041.1:p.Asp298Gly
ENST00000556045.6:c.4199A>G	ENSP00000451041.2:p.Asp1400Gly
ENST00000674628.2:c.4199A>G	ENSP00000502730.2:p.Asp1400Gly
ENST00000675540.1:c.1944A>G	ENSP00000501988.1:n.1944A>G
ENST00000675540.2:c.*849A>G	ENSP00000501988.2:n.*849A>G
ENST00000675995.1:c.*2515A>G	ENSP00000502591.1:n.*2515A>G
ENST00000696733.1:c.4199A>G	ENSP00000512838.1:p.Asp1400Gly
ENST00000696734.1:c.4199A>G	ENSP00000512839.1:p.Asp1400Gly
ENST00000696735.1:n.1186A>G
ENST00000696736.1:c.4199A>G	ENSP00000512840.1:p.Asp1400Gly
ENST00000696737.1:c.4199A>G	ENSP00000512841.1:p.Asp1400Gly
ENST00000696920.1:n.4462A>G
ENST00000696921.1:n.5305A>G
ENST00000696922.1:n.4608A>G
ENST00000696923.1:c.4199A>G	ENSP00000512976.1:p.Asp1400Gly
ENST00000696924.1:c.4199A>G	ENSP00000512977.1:p.Asp1400Gly
ENST00000696925.1:n.4608A>G
XM_011536599.1:c.4199A>G	XP_011534901.1:p.Asp1400Gly
XM_011536599.2:c.4199A>G	XP_011534901.1:p.Asp1400Gly
XM_011536600.1:c.4199A>G	XP_011534902.1:p.Asp1400Gly
XM_011536600.3:c.4199A>G	XP_011534902.1:p.Asp1400Gly
XM_011536601.1:c.4199A>G	XP_011534903.1:p.Asp1400Gly
XM_011536601.3:c.4199A>G	XP_011534903.1:p.Asp1400Gly
XM_011536602.1:c.4199A>G	XP_011534904.1:p.Asp1400Gly
XM_011536602.3:c.4199A>G	XP_011534904.1:p.Asp1400Gly
XM_011536603.1:c.4199A>G	XP_011534905.1:p.Asp1400Gly
XM_011536604.1:c.3794A>G	XP_011534906.1:p.Asp1265Gly
XM_011536604.2:c.3794A>G	XP_011534906.1:p.Asp1265Gly
XM_011536605.1:c.2720A>G	XP_011534907.1:p.Asp907Gly
XM_011536605.2:c.2720A>G	XP_011534907.1:p.Asp907Gly
XM_017021120.2:c.4199A>G	XP_016876609.1:p.Asp1400Gly
XM_017021121.2:c.4199A>G	XP_016876610.1:p.Asp1400Gly
XM_017021122.2:c.3794A>G	XP_016876611.1:p.Asp1265Gly
XM_017021123.2:c.3794A>G	XP_016876612.1:p.Asp1265Gly