Canonical Allele Identifier: CA1725939139

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504884A= , CM000669.2:g.92504884A=	GRCh38
NC_000007.13:g.92134198A= , CM000669.1:g.92134198A=	GRCh37
NC_000007.12:g.91972134A=	NCBI36
NG_008341.1:g.28648T=
NG_008341.2:g.28648T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1919T= MANE Select	ENSP00000248633.4:p.Ile640=
ENST00000248633.8:c.1919T=	ENSP00000248633.4:p.Ile640=
ENST00000428214.5:c.1900+1364T=	ENSP00000394413.1:n.1900+1364T=
ENST00000438045.5:c.953T=	ENSP00000410438.1:p.Ile318=
ENST00000484913.5:n.1958T=
ENST00000496420.5:n.1595T=
NM_000466.2:c.1919T=	NP_000457.1:p.Ile640=
NM_001282677.1:c.1900+1364T=	NP_001269606.1:n.1900+1364T=
NM_001282678.1:c.1295T=	NP_001269607.1:p.Ile432=
XM_005250433.3:c.170T=	XP_005250490.1:p.Ile57=
XR_242246.3:n.2015T=
XM_017012319.2:c.170T=	XP_016867808.1:p.Ile57=
XR_001744808.2:n.946T=
XR_242246.5:n.1966T=
NM_000466.3:c.1919T= MANE Select	NP_000457.1:p.Ile640=
NM_001282677.2:c.1900+1364T=	NP_001269606.1:n.1900+1364T=
NM_001282678.2:c.1295T=	NP_001269607.1:p.Ile432=