Canonical Allele Identifier: CA1725936152

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502066T= , CM000669.2:g.92502066T=	GRCh38
NC_000007.13:g.92131380T= , CM000669.1:g.92131380T=	GRCh37
NC_000007.12:g.91969316T=	NCBI36
NG_008341.1:g.31466A=
NG_008341.2:g.31466A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2240A= MANE Select	ENSP00000248633.4:p.Glu747=
ENST00000248633.8:c.2240A=	ENSP00000248633.4:p.Glu747=
ENST00000428214.5:c.2069A=	ENSP00000394413.1:p.Glu690=
ENST00000438045.5:c.1274A=	ENSP00000410438.1:p.Glu425=
ENST00000484913.5:n.2279A=
ENST00000496092.1:n.38A=
ENST00000496420.5:n.1916A=
NM_000466.2:c.2240A=	NP_000457.1:p.Glu747=
NM_001282677.1:c.2069A=	NP_001269606.1:p.Glu690=
NM_001282678.1:c.1616A=	NP_001269607.1:p.Glu539=
XM_005250433.3:c.491A=	XP_005250490.1:p.Glu164=
XR_242246.3:n.2336A=
XM_017012319.2:c.491A=	XP_016867808.1:p.Glu164=
XR_001744808.2:n.1267A=
XR_242246.5:n.2287A=
NM_000466.3:c.2240A= MANE Select	NP_000457.1:p.Glu747=
NM_001282677.2:c.2069A=	NP_001269606.1:p.Glu690=
NM_001282678.2:c.1616A=	NP_001269607.1:p.Glu539=