Canonical Allele Identifier: CA1725939161

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504890T= , CM000669.2:g.92504890T=	GRCh38
NC_000007.13:g.92134204T= , CM000669.1:g.92134204T=	GRCh37
NC_000007.12:g.91972140T=	NCBI36
NG_008341.1:g.28642A=
NG_008341.2:g.28642A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1913A= MANE Select	ENSP00000248633.4:p.Glu638=
ENST00000248633.8:c.1913A=	ENSP00000248633.4:p.Glu638=
ENST00000422866.1:c.731A=
ENST00000428214.5:c.1900+1358A=	ENSP00000394413.1:n.1900+1358A=
ENST00000438045.5:c.947A=	ENSP00000410438.1:p.Glu316=
ENST00000484913.5:n.1952A=
ENST00000496420.5:n.1589A=
NM_000466.2:c.1913A=	NP_000457.1:p.Glu638=
NM_001282677.1:c.1900+1358A=	NP_001269606.1:n.1900+1358A=
NM_001282678.1:c.1289A=	NP_001269607.1:p.Glu430=
XM_005250433.3:c.164A=	XP_005250490.1:p.Glu55=
XR_242246.3:n.2009A=
XM_017012319.2:c.164A=	XP_016867808.1:p.Glu55=
XR_001744808.2:n.940A=
XR_242246.5:n.1960A=
NM_000466.3:c.1913A= MANE Select	NP_000457.1:p.Glu638=
NM_001282677.2:c.1900+1358A=	NP_001269606.1:n.1900+1358A=
NM_001282678.2:c.1289A=	NP_001269607.1:p.Glu430=