Canonical Allele Identifier: CA1725947588

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517616G= , CM000669.2:g.92517616G=	GRCh38
NC_000007.13:g.92146930G= , CM000669.1:g.92146930G=	GRCh37
NC_000007.12:g.91984866G=	NCBI36
NG_008341.1:g.15916C=
NG_008341.2:g.15916C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.899C= MANE Select	ENSP00000248633.4:p.Ala300=
ENST00000248633.8:c.899C=	ENSP00000248633.4:p.Ala300=
ENST00000428214.5:c.899C=	ENSP00000394413.1:p.Ala300=
ENST00000438045.5:c.274-3649C=	ENSP00000410438.1:n.274-3649C=
ENST00000484913.5:n.938C=
NM_000466.2:c.899C=	NP_000457.1:p.Ala300=
NM_001282677.1:c.899C=	NP_001269606.1:p.Ala300=
NM_001282678.1:c.275C=	NP_001269607.1:p.Ala92=
XR_242246.3:n.995C=
XM_017012319.2:c.-768C=	XP_016867808.1:n.-768C=
XR_001744808.2:n.9C=
XR_242246.5:n.946C=
NM_000466.3:c.899C= MANE Select	NP_000457.1:p.Ala300=
NM_001282677.2:c.899C=	NP_001269606.1:p.Ala300=
NM_001282678.2:c.275C=	NP_001269607.1:p.Ala92=