Canonical Allele Identifier: CA1725937929

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511010C= , CM000669.2:g.92511010C=	GRCh38
NC_000007.13:g.92140324C= , CM000669.1:g.92140324C=	GRCh37
NC_000007.12:g.91978260C=	NCBI36
NG_008341.1:g.22522G=
NG_008341.2:g.22522G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1521G= MANE Select	ENSP00000248633.4:p.Trp507=
ENST00000248633.8:c.1521G=	ENSP00000248633.4:p.Trp507=
ENST00000422866.1:c.422G=
ENST00000428214.5:c.1521G=	ENSP00000394413.1:p.Trp507=
ENST00000438045.5:c.555G=	ENSP00000410438.1:p.Trp185=
ENST00000476923.1:n.282G=
ENST00000484913.5:n.1560G=
NM_000466.2:c.1521G=	NP_000457.1:p.Trp507=
NM_001282677.1:c.1521G=	NP_001269606.1:p.Trp507=
NM_001282678.1:c.897G=	NP_001269607.1:p.Trp299=
XM_005250433.3:c.-146G=	XP_005250490.1:n.-146G=
XR_242246.3:n.1617G=
XM_017012319.2:c.-146G=	XP_016867808.1:n.-146G=
XR_001744808.2:n.631G=
XR_242246.5:n.1568G=
NM_000466.3:c.1521G= MANE Select	NP_000457.1:p.Trp507=
NM_001282677.2:c.1521G=	NP_001269606.1:p.Trp507=
NM_001282678.2:c.897G=	NP_001269607.1:p.Trp299=