Canonical Allele Identifier: CA1725936092

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501932T= , CM000669.2:g.92501932T=	GRCh38
NC_000007.13:g.92131246T= , CM000669.1:g.92131246T=	GRCh37
NC_000007.12:g.91969182T=	NCBI36
NG_008341.1:g.31600A=
NG_008341.2:g.31600A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2374A= MANE Select	ENSP00000248633.4:p.Ile792=
ENST00000248633.8:c.2374A=	ENSP00000248633.4:p.Ile792=
ENST00000428214.5:c.2203A=	ENSP00000394413.1:p.Ile735=
ENST00000438045.5:c.1408A=	ENSP00000410438.1:p.Ile470=
ENST00000484913.5:n.2413A=
ENST00000496092.1:n.172A=
ENST00000496420.5:n.2050A=
NM_000466.2:c.2374A=	NP_000457.1:p.Ile792=
NM_001282677.1:c.2203A=	NP_001269606.1:p.Ile735=
NM_001282678.1:c.1750A=	NP_001269607.1:p.Ile584=
XM_005250433.3:c.625A=	XP_005250490.1:p.Ile209=
XR_242246.3:n.2470A=
XM_017012319.2:c.625A=	XP_016867808.1:p.Ile209=
XR_001744808.2:n.1401A=
XR_242246.5:n.2421A=
NM_000466.3:c.2374A= MANE Select	NP_000457.1:p.Ile792=
NM_001282677.2:c.2203A=	NP_001269606.1:p.Ile735=
NM_001282678.2:c.1750A=	NP_001269607.1:p.Ile584=