Canonical Allele Identifier: CA1668950

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55917781C>T , CM000664.2:g.55917781C>T	GRCh38
NC_000002.11:g.56144916C>T , CM000664.1:g.56144916C>T	GRCh37
NC_000002.10:g.55998420C>T	NCBI36
NG_009098.1:g.11017G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001039348.3:c.401G>A MANE Select	NP_001034437.1:p.Arg134Gln
ENST00000355426.8:c.401G>A MANE Select	ENSP00000347596.3:p.Arg134Gln
NM_001039348.2:c.401G>A	NP_001034437.1:p.Arg134Gln
NM_001039349.2:c.401G>A	NP_001034438.1:p.Arg134Gln
NM_001039349.3:c.401G>A	NP_001034438.1:p.Arg134Gln
ENST00000355426.7:c.401G>A	ENSP00000347596.3:p.Arg134Gln
ENST00000394555.6:c.401G>A	ENSP00000378058.2:p.Arg134Gln
ENST00000438672.5:c.401G>A	ENSP00000392055.1:p.Arg134Gln
ENST00000452161.5:n.507G>A
ENST00000635671.1:c.*293G>A	ENSP00000489578.1:n.*293G>A
XM_005264205.3:c.791G>A	XP_005264262.1:p.Arg264Gln
XM_005264205.4:c.791G>A	XP_005264262.1:p.Arg264Gln
XM_017003586.2:c.401G>A	XP_016859075.1:p.Arg134Gln
XM_024452755.1:c.401G>A	XP_024308523.1:p.Arg134Gln
XM_024452756.1:c.401G>A	XP_024308524.1:p.Arg134Gln
XM_024452757.1:c.401G>A	XP_024308525.1:p.Arg134Gln