Canonical Allele Identifier: CA1725938868

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504794A= , CM000669.2:g.92504794A=	GRCh38
NC_000007.13:g.92134108A= , CM000669.1:g.92134108A=	GRCh37
NC_000007.12:g.91972044A=	NCBI36
NG_008341.1:g.28738T=
NG_008341.2:g.28738T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2009T= MANE Select	ENSP00000248633.4:p.Leu670=
ENST00000248633.8:c.2009T=	ENSP00000248633.4:p.Leu670=
ENST00000428214.5:c.1900+1454T=	ENSP00000394413.1:n.1900+1454T=
ENST00000438045.5:c.1043T=	ENSP00000410438.1:p.Leu348=
ENST00000484913.5:n.2048T=
ENST00000496420.5:n.1685T=
NM_000466.2:c.2009T=	NP_000457.1:p.Leu670=
NM_001282677.1:c.1900+1454T=	NP_001269606.1:n.1900+1454T=
NM_001282678.1:c.1385T=	NP_001269607.1:p.Leu462=
XM_005250433.3:c.260T=	XP_005250490.1:p.Leu87=
XR_242246.3:n.2105T=
XM_017012319.2:c.260T=	XP_016867808.1:p.Leu87=
XR_001744808.2:n.1036T=
XR_242246.5:n.2056T=
NM_000466.3:c.2009T= MANE Select	NP_000457.1:p.Leu670=
NM_001282677.2:c.1900+1454T=	NP_001269606.1:n.1900+1454T=
NM_001282678.2:c.1385T=	NP_001269607.1:p.Leu462=