Canonical Allele Identifier: CA1725942126

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507051C= , CM000669.2:g.92507051C=	GRCh38
NC_000007.13:g.92136365C= , CM000669.1:g.92136365C=	GRCh37
NC_000007.12:g.91974301C=	NCBI36
NG_008341.1:g.26481G=
NG_008341.2:g.26481G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1746G= MANE Select	ENSP00000248633.4:p.Gln582=
ENST00000248633.8:c.1746G=	ENSP00000248633.4:p.Gln582=
ENST00000422866.1:c.564G=
ENST00000428214.5:c.1746G=	ENSP00000394413.1:p.Gln582=
ENST00000438045.5:c.780G=	ENSP00000410438.1:p.Gln260=
ENST00000484913.5:n.1785G=
ENST00000496420.5:n.773G=
NM_000466.2:c.1746G=	NP_000457.1:p.Gln582=
NM_001282677.1:c.1746G=	NP_001269606.1:p.Gln582=
NM_001282678.1:c.1122G=	NP_001269607.1:p.Gln374=
XM_005250433.3:c.-4G=	XP_005250490.1:n.-4G=
XR_242246.3:n.1842G=
XM_017012319.2:c.-4G=	XP_016867808.1:n.-4G=
XR_001744808.2:n.773G=
XR_242246.5:n.1793G=
NM_000466.3:c.1746G= MANE Select	NP_000457.1:p.Gln582=
NM_001282677.2:c.1746G=	NP_001269606.1:p.Gln582=
NM_001282678.2:c.1122G=	NP_001269607.1:p.Gln374=