Canonical Allele Identifier: CA1725937835

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510964G= , CM000669.2:g.92510964G=	GRCh38
NC_000007.13:g.92140278G= , CM000669.1:g.92140278G=	GRCh37
NC_000007.12:g.91978214G=	NCBI36
NG_008341.1:g.22568C=
NG_008341.2:g.22568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1567C= MANE Select	ENSP00000248633.4:p.Leu523=
ENST00000248633.8:c.1567C=	ENSP00000248633.4:p.Leu523=
ENST00000422866.1:c.468C=
ENST00000428214.5:c.1567C=	ENSP00000394413.1:p.Leu523=
ENST00000438045.5:c.601C=	ENSP00000410438.1:p.Leu201=
ENST00000476923.1:n.328C=
ENST00000484913.5:n.1606C=
NM_000466.2:c.1567C=	NP_000457.1:p.Leu523=
NM_001282677.1:c.1567C=	NP_001269606.1:p.Leu523=
NM_001282678.1:c.943C=	NP_001269607.1:p.Leu315=
XM_005250433.3:c.-100C=	XP_005250490.1:n.-100C=
XR_242246.3:n.1663C=
XM_017012319.2:c.-100C=	XP_016867808.1:n.-100C=
XR_001744808.2:n.677C=
XR_242246.5:n.1614C=
NM_000466.3:c.1567C= MANE Select	NP_000457.1:p.Leu523=
NM_001282677.2:c.1567C=	NP_001269606.1:p.Leu523=
NM_001282678.2:c.943C=	NP_001269607.1:p.Leu315=