Canonical Allele Identifier: CA1725941990

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506999C= , CM000669.2:g.92506999C=	GRCh38
NC_000007.13:g.92136313C= , CM000669.1:g.92136313C=	GRCh37
NC_000007.12:g.91974249C=	NCBI36
NG_008341.1:g.26533G=
NG_008341.2:g.26533G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1798G= MANE Select	ENSP00000248633.4:p.Gly600=
ENST00000248633.8:c.1798G=	ENSP00000248633.4:p.Gly600=
ENST00000422866.1:c.616G=
ENST00000428214.5:c.1798G=	ENSP00000394413.1:p.Gly600=
ENST00000438045.5:c.832G=	ENSP00000410438.1:p.Gly278=
ENST00000484913.5:n.1837G=
ENST00000496420.5:n.825G=
NM_000466.2:c.1798G=	NP_000457.1:p.Gly600=
NM_001282677.1:c.1798G=	NP_001269606.1:p.Gly600=
NM_001282678.1:c.1174G=	NP_001269607.1:p.Gly392=
XM_005250433.3:c.49G=	XP_005250490.1:p.Gly17=
XR_242246.3:n.1894G=
XM_017012319.2:c.49G=	XP_016867808.1:p.Gly17=
XR_001744808.2:n.825G=
XR_242246.5:n.1845G=
NM_000466.3:c.1798G= MANE Select	NP_000457.1:p.Gly600=
NM_001282677.2:c.1798G=	NP_001269606.1:p.Gly600=
NM_001282678.2:c.1174G=	NP_001269607.1:p.Gly392=