Canonical Allele Identifier: CA1252504900

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55871091G= , CM000664.2:g.55871091G=	GRCh38
NC_000002.11:g.56098226G= , CM000664.1:g.56098226G=	GRCh37
NC_000002.10:g.55951730G=	NCBI36
NG_009098.1:g.57707C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355426.8:c.1033C= MANE Select	ENSP00000347596.3:p.Arg345=
ENST00000355426.7:c.1033C=	ENSP00000347596.3:p.Arg345=
ENST00000394555.6:c.1033C=	ENSP00000378058.2:p.Arg345=
ENST00000634374.1:c.392C=
ENST00000635671.1:c.*685C=	ENSP00000489578.1:n.*685C=
NM_001039348.2:c.1033C=	NP_001034437.1:p.Arg345=
NM_001039349.2:c.1033C=	NP_001034438.1:p.Arg345=
XM_005264205.3:c.1183C=	XP_005264262.1:p.Arg395=
XR_940108.1:n.229-2792G=
XM_005264205.4:c.1183C=	XP_005264262.1:p.Arg395=
XM_017003586.2:c.793C=	XP_016859075.1:p.Arg265=
XM_024452755.1:c.1033C=	XP_024308523.1:p.Arg345=
XM_024452756.1:c.1033C=	XP_024308524.1:p.Arg345=
XM_024452757.1:c.793C=	XP_024308525.1:p.Arg265=
XR_002959388.1:n.229-2792G=
NM_001039348.3:c.1033C= MANE Select	NP_001034437.1:p.Arg345=
NM_001039349.3:c.1033C=	NP_001034438.1:p.Arg345=