Canonical Allele Identifier: CA245997

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55917764G>A , CM000664.2:g.55917764G>A	GRCh38
NC_000002.11:g.56144899G>A , CM000664.1:g.56144899G>A	GRCh37
NC_000002.10:g.55998403G>A	NCBI36
NG_009098.1:g.11034C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001039348.3:c.418C>T MANE Select	NP_001034437.1:p.Arg140Trp
ENST00000355426.8:c.418C>T MANE Select	ENSP00000347596.3:p.Arg140Trp
NM_001039348.2:c.418C>T	NP_001034437.1:p.Arg140Trp
NM_001039349.2:c.418C>T	NP_001034438.1:p.Arg140Trp
NM_001039349.3:c.418C>T	NP_001034438.1:p.Arg140Trp
ENST00000355426.7:c.418C>T	ENSP00000347596.3:p.Arg140Trp
ENST00000394555.6:c.418C>T	ENSP00000378058.2:p.Arg140Trp
ENST00000438672.5:c.418C>T	ENSP00000392055.1:p.Arg140Trp
ENST00000452161.5:n.524C>T
ENST00000634374.1:c.17C>T
ENST00000635671.1:c.*310C>T	ENSP00000489578.1:n.*310C>T
XM_005264205.3:c.808C>T	XP_005264262.1:p.Arg270Trp
XM_005264205.4:c.808C>T	XP_005264262.1:p.Arg270Trp
XM_017003586.2:c.418C>T	XP_016859075.1:p.Arg140Trp
XM_024452755.1:c.418C>T	XP_024308523.1:p.Arg140Trp
XM_024452756.1:c.418C>T	XP_024308524.1:p.Arg140Trp
XM_024452757.1:c.418C>T	XP_024308525.1:p.Arg140Trp