Canonical Allele Identifier: CA1725948537

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518213T= , CM000669.2:g.92518213T=	GRCh38
NC_000007.13:g.92147527T= , CM000669.1:g.92147527T=	GRCh37
NC_000007.12:g.91985463T=	NCBI36
NG_008341.1:g.15319A=
NG_008341.2:g.15319A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.400A= MANE Select	ENSP00000248633.4:p.Ile134=
ENST00000248633.8:c.400A=	ENSP00000248633.4:p.Ile134=
ENST00000428214.5:c.400A=	ENSP00000394413.1:p.Ile134=
ENST00000438045.5:c.273+3889A=	ENSP00000410438.1:n.273+3889A=
ENST00000484913.5:n.439A=
NM_000466.2:c.400A=	NP_000457.1:p.Ile134=
NM_001282677.1:c.400A=	NP_001269606.1:p.Ile134=
NM_001282678.1:c.-225A=	NP_001269607.1:n.-225A=
XR_242246.3:n.496A=
XR_242246.5:n.447A=
NM_000466.3:c.400A= MANE Select	NP_000457.1:p.Ile134=
NM_001282677.2:c.400A=	NP_001269606.1:p.Ile134=
NM_001282678.2:c.-225A=	NP_001269607.1:n.-225A=