Canonical Allele Identifier: CA1725935164

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499741A= , CM000669.2:g.92499741A=	GRCh38
NC_000007.13:g.92129055A= , CM000669.1:g.92129055A=	GRCh37
NC_000007.12:g.91966991A=	NCBI36
NG_008341.1:g.33791T=
NG_008341.2:g.33791T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2681T= MANE Select	ENSP00000248633.4:p.Ile894=
ENST00000248633.8:c.2681T=	ENSP00000248633.4:p.Ile894=
ENST00000428214.5:c.2510T=	ENSP00000394413.1:p.Ile837=
ENST00000438045.5:c.1715T=	ENSP00000410438.1:p.Ile572=
ENST00000484913.5:n.2720T=
ENST00000496420.5:n.2573T=
NM_000466.2:c.2681T=	NP_000457.1:p.Ile894=
NM_001282677.1:c.2510T=	NP_001269606.1:p.Ile837=
NM_001282678.1:c.2057T=	NP_001269607.1:p.Ile686=
XM_005250433.3:c.932T=	XP_005250490.1:p.Ile311=
XR_242246.3:n.2777T=
XM_017012319.2:c.932T=	XP_016867808.1:p.Ile311=
XR_001744808.2:n.1708T=
XR_242246.5:n.2728T=
NM_000466.3:c.2681T= MANE Select	NP_000457.1:p.Ile894=
NM_001282677.2:c.2510T=	NP_001269606.1:p.Ile837=
NM_001282678.2:c.2057T=	NP_001269607.1:p.Ile686=