Canonical Allele Identifier: CA1725951686

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522231T= , CM000669.2:g.92522231T=	GRCh38
NC_000007.13:g.92151545T= , CM000669.1:g.92151545T=	GRCh37
NC_000007.12:g.91989481T=	NCBI36
NG_008341.1:g.11301A=
NG_008341.2:g.11301A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.144A= MANE Select	ENSP00000248633.4:p.Glu48=
ENST00000248633.8:c.144A=	ENSP00000248633.4:p.Glu48=
ENST00000428214.5:c.144A=	ENSP00000394413.1:p.Glu48=
ENST00000438045.5:c.144A=	ENSP00000410438.1:p.Glu48=
ENST00000484913.5:n.148A=
NM_000466.2:c.144A=	NP_000457.1:p.Glu48=
NM_001282677.1:c.144A=	NP_001269606.1:p.Glu48=
NM_001282678.1:c.-516A=	NP_001269607.1:n.-516A=
XR_242246.3:n.240A=
XR_242246.5:n.191A=
NM_000466.3:c.144A= MANE Select	NP_000457.1:p.Glu48=
NM_001282677.2:c.144A=	NP_001269606.1:p.Glu48=
NM_001282678.2:c.-516A=	NP_001269607.1:n.-516A=