Canonical Allele Identifier: CA1725936999

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503087C= , CM000669.2:g.92503087C=	GRCh38
NC_000007.13:g.92132401C= , CM000669.1:g.92132401C=	GRCh37
NC_000007.12:g.91970337C=	NCBI36
NG_008341.1:g.30445G=
NG_008341.2:g.30445G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2180G= MANE Select	ENSP00000248633.4:p.Gly727=
ENST00000248633.8:c.2180G=	ENSP00000248633.4:p.Gly727=
ENST00000428214.5:c.2009G=	ENSP00000394413.1:p.Gly670=
ENST00000438045.5:c.1214G=	ENSP00000410438.1:p.Gly405=
ENST00000484913.5:n.2219G=
ENST00000496420.5:n.1856G=
NM_000466.2:c.2180G=	NP_000457.1:p.Gly727=
NM_001282677.1:c.2009G=	NP_001269606.1:p.Gly670=
NM_001282678.1:c.1556G=	NP_001269607.1:p.Gly519=
XM_005250433.3:c.431G=	XP_005250490.1:p.Gly144=
XR_242246.3:n.2276G=
XM_017012319.2:c.431G=	XP_016867808.1:p.Gly144=
XR_001744808.2:n.1207G=
XR_242246.5:n.2227G=
NM_000466.3:c.2180G= MANE Select	NP_000457.1:p.Gly727=
NM_001282677.2:c.2009G=	NP_001269606.1:p.Gly670=
NM_001282678.2:c.1556G=	NP_001269607.1:p.Gly519=