Canonical Allele Identifier: CA1725937905

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511003C= , CM000669.2:g.92511003C=	GRCh38
NC_000007.13:g.92140317C= , CM000669.1:g.92140317C=	GRCh37
NC_000007.12:g.91978253C=	NCBI36
NG_008341.1:g.22529G=
NG_008341.2:g.22529G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1528G= MANE Select	ENSP00000248633.4:p.Glu510=
ENST00000248633.8:c.1528G=	ENSP00000248633.4:p.Glu510=
ENST00000422866.1:c.429G=
ENST00000428214.5:c.1528G=	ENSP00000394413.1:p.Glu510=
ENST00000438045.5:c.562G=	ENSP00000410438.1:p.Glu188=
ENST00000476923.1:n.289G=
ENST00000484913.5:n.1567G=
NM_000466.2:c.1528G=	NP_000457.1:p.Glu510=
NM_001282677.1:c.1528G=	NP_001269606.1:p.Glu510=
NM_001282678.1:c.904G=	NP_001269607.1:p.Glu302=
XM_005250433.3:c.-139G=	XP_005250490.1:n.-139G=
XR_242246.3:n.1624G=
XM_017012319.2:c.-139G=	XP_016867808.1:n.-139G=
XR_001744808.2:n.638G=
XR_242246.5:n.1575G=
NM_000466.3:c.1528G= MANE Select	NP_000457.1:p.Glu510=
NM_001282677.2:c.1528G=	NP_001269606.1:p.Glu510=
NM_001282678.2:c.904G=	NP_001269607.1:p.Glu302=