Canonical Allele Identifier: CA426224750

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55918008T>A , CM000664.2:g.55918008T>A	GRCh38
NC_000002.11:g.56145143T>A , CM000664.1:g.56145143T>A	GRCh37
NC_000002.10:g.55998647T>A	NCBI36
NG_009098.1:g.10790A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355426.8:c.174A>T MANE Select	ENSP00000347596.3:p.Gly58=
ENST00000355426.7:c.174A>T	ENSP00000347596.3:p.Gly58=
ENST00000394555.6:c.174A>T	ENSP00000378058.2:p.Gly58=
ENST00000429909.5:c.174A>T	ENSP00000389319.1:p.Gly58=
ENST00000438672.5:c.174A>T	ENSP00000392055.1:p.Gly58=
ENST00000439193.5:c.174A>T	ENSP00000408195.1:p.Gly58=
ENST00000440439.5:c.174A>T	ENSP00000398345.1:p.Gly58=
ENST00000452161.5:n.280A>T
ENST00000452337.5:c.174A>T	ENSP00000399480.1:p.Gly58=
ENST00000635671.1:c.*66A>T	ENSP00000489578.1:n.*66A>T
NM_001039348.2:c.174A>T	NP_001034437.1:p.Gly58=
NM_001039349.2:c.174A>T	NP_001034438.1:p.Gly58=
XM_005264205.3:c.564A>T	XP_005264262.1:p.Gly188=
XM_005264205.4:c.564A>T	XP_005264262.1:p.Gly188=
XM_017003586.2:c.174A>T	XP_016859075.1:p.Gly58=
XM_024452755.1:c.174A>T	XP_024308523.1:p.Gly58=
XM_024452756.1:c.174A>T	XP_024308524.1:p.Gly58=
XM_024452757.1:c.174A>T	XP_024308525.1:p.Gly58=
NM_001039348.3:c.174A>T MANE Select	NP_001034437.1:p.Gly58=
NM_001039349.3:c.174A>T	NP_001034438.1:p.Gly58=