Canonical Allele Identifier: CA1725947768

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517708T= , CM000669.2:g.92517708T=	GRCh38
NC_000007.13:g.92147022T= , CM000669.1:g.92147022T=	GRCh37
NC_000007.12:g.91984958T=	NCBI36
NG_008341.1:g.15824A=
NG_008341.2:g.15824A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.807A= MANE Select	ENSP00000248633.4:p.Glu269=
ENST00000248633.8:c.807A=	ENSP00000248633.4:p.Glu269=
ENST00000428214.5:c.807A=	ENSP00000394413.1:p.Glu269=
ENST00000438045.5:c.274-3741A=	ENSP00000410438.1:n.274-3741A=
ENST00000484913.5:n.846A=
NM_000466.2:c.807A=	NP_000457.1:p.Glu269=
NM_001282677.1:c.807A=	NP_001269606.1:p.Glu269=
NM_001282678.1:c.183A=	NP_001269607.1:p.Glu61=
XR_242246.3:n.903A=
XR_242246.5:n.854A=
NM_000466.3:c.807A= MANE Select	NP_000457.1:p.Glu269=
NM_001282677.2:c.807A=	NP_001269606.1:p.Glu269=
NM_001282678.2:c.183A=	NP_001269607.1:p.Glu61=