Canonical Allele Identifier: CA369003475

Gene: CPED1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.121136045G>A , CM000669.2:g.121136045G>A	GRCh38
NC_000007.13:g.120776099G>A , CM000669.1:g.120776099G>A	GRCh37
NC_000007.12:g.120563335G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310396.10:c.1654G>A MANE Select	ENSP00000309772.5:p.Val552Ile
ENST00000310396.9:c.1654G>A	ENSP00000309772.5:p.Val552Ile
ENST00000423795.5:c.994G>A	ENSP00000415573.1:p.Val332Ile
ENST00000443817.1:c.994G>A	ENSP00000391952.1:p.Val332Ile
ENST00000450913.6:c.1654G>A	ENSP00000406122.2:p.Val552Ile
NM_001105533.1:c.1654G>A	NP_001099003.1:p.Val552Ile
NM_024913.4:c.1654G>A	NP_079189.4:p.Val552Ile
XM_011516583.1:c.1654G>A	XP_011514885.1:p.Val552Ile
XM_017012649.2:c.1654G>A	XP_016868138.1:p.Val552Ile
XM_024446941.1:c.1141G>A	XP_024302709.1:p.Val381Ile
NM_024913.5:c.1654G>A MANE Select	NP_079189.4:p.Val552Ile