Canonical Allele Identifier: CA1725947380

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517467G= , CM000669.2:g.92517467G=	GRCh38
NC_000007.13:g.92146781G= , CM000669.1:g.92146781G=	GRCh37
NC_000007.12:g.91984717G=	NCBI36
NG_008341.1:g.16065C=
NG_008341.2:g.16065C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1048C= MANE Select	ENSP00000248633.4:p.Gln350=
ENST00000248633.8:c.1048C=	ENSP00000248633.4:p.Gln350=
ENST00000428214.5:c.1048C=	ENSP00000394413.1:p.Gln350=
ENST00000438045.5:c.274-3500C=	ENSP00000410438.1:n.274-3500C=
ENST00000484913.5:n.1087C=
NM_000466.2:c.1048C=	NP_000457.1:p.Gln350=
NM_001282677.1:c.1048C=	NP_001269606.1:p.Gln350=
NM_001282678.1:c.424C=	NP_001269607.1:p.Gln142=
XR_242246.3:n.1144C=
XM_017012319.2:c.-619C=	XP_016867808.1:n.-619C=
XR_001744808.2:n.158C=
XR_242246.5:n.1095C=
NM_000466.3:c.1048C= MANE Select	NP_000457.1:p.Gln350=
NM_001282677.2:c.1048C=	NP_001269606.1:p.Gln350=
NM_001282678.2:c.424C=	NP_001269607.1:p.Gln142=