Canonical Allele Identifier: CA1725947927

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517821C= , CM000669.2:g.92517821C=	GRCh38
NC_000007.13:g.92147135C= , CM000669.1:g.92147135C=	GRCh37
NC_000007.12:g.91985071C=	NCBI36
NG_008341.1:g.15711G=
NG_008341.2:g.15711G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.694G= MANE Select	ENSP00000248633.4:p.Glu232=
ENST00000248633.8:c.694G=	ENSP00000248633.4:p.Glu232=
ENST00000428214.5:c.694G=	ENSP00000394413.1:p.Glu232=
ENST00000438045.5:c.274-3854G=	ENSP00000410438.1:n.274-3854G=
ENST00000484913.5:n.733G=
NM_000466.2:c.694G=	NP_000457.1:p.Glu232=
NM_001282677.1:c.694G=	NP_001269606.1:p.Glu232=
NM_001282678.1:c.70G=	NP_001269607.1:p.Glu24=
XR_242246.3:n.790G=
XR_242246.5:n.741G=
NM_000466.3:c.694G= MANE Select	NP_000457.1:p.Glu232=
NM_001282677.2:c.694G=	NP_001269606.1:p.Glu232=
NM_001282678.2:c.70G=	NP_001269607.1:p.Glu24=