Canonical Allele Identifier: CA1725947833

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517743C= , CM000669.2:g.92517743C=	GRCh38
NC_000007.13:g.92147057C= , CM000669.1:g.92147057C=	GRCh37
NC_000007.12:g.91984993C=	NCBI36
NG_008341.1:g.15789G=
NG_008341.2:g.15789G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.772G= MANE Select	ENSP00000248633.4:p.Glu258=
ENST00000248633.8:c.772G=	ENSP00000248633.4:p.Glu258=
ENST00000428214.5:c.772G=	ENSP00000394413.1:p.Glu258=
ENST00000438045.5:c.274-3776G=	ENSP00000410438.1:n.274-3776G=
ENST00000484913.5:n.811G=
NM_000466.2:c.772G=	NP_000457.1:p.Glu258=
NM_001282677.1:c.772G=	NP_001269606.1:p.Glu258=
NM_001282678.1:c.148G=	NP_001269607.1:p.Glu50=
XR_242246.3:n.868G=
XR_242246.5:n.819G=
NM_000466.3:c.772G= MANE Select	NP_000457.1:p.Glu258=
NM_001282677.2:c.772G=	NP_001269606.1:p.Glu258=
NM_001282678.2:c.148G=	NP_001269607.1:p.Glu50=