Canonical Allele Identifier: CA1725937935

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511013A= , CM000669.2:g.92511013A=	GRCh38
NC_000007.13:g.92140327A= , CM000669.1:g.92140327A=	GRCh37
NC_000007.12:g.91978263A=	NCBI36
NG_008341.1:g.22519T=
NG_008341.2:g.22519T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1518T= MANE Select	ENSP00000248633.4:p.Ser506=
ENST00000248633.8:c.1518T=	ENSP00000248633.4:p.Ser506=
ENST00000422866.1:c.419T=
ENST00000428214.5:c.1518T=	ENSP00000394413.1:p.Ser506=
ENST00000438045.5:c.552T=	ENSP00000410438.1:p.Ser184=
ENST00000476923.1:n.279T=
ENST00000484913.5:n.1557T=
NM_000466.2:c.1518T=	NP_000457.1:p.Ser506=
NM_001282677.1:c.1518T=	NP_001269606.1:p.Ser506=
NM_001282678.1:c.894T=	NP_001269607.1:p.Ser298=
XM_005250433.3:c.-149T=	XP_005250490.1:n.-149T=
XR_242246.3:n.1614T=
XM_017012319.2:c.-149T=	XP_016867808.1:n.-149T=
XR_001744808.2:n.628T=
XR_242246.5:n.1565T=
NM_000466.3:c.1518T= MANE Select	NP_000457.1:p.Ser506=
NM_001282677.2:c.1518T=	NP_001269606.1:p.Ser506=
NM_001282678.2:c.894T=	NP_001269607.1:p.Ser298=