Canonical Allele Identifier: CA1725938829

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504779T= , CM000669.2:g.92504779T=	GRCh38
NC_000007.13:g.92134093T= , CM000669.1:g.92134093T=	GRCh37
NC_000007.12:g.91972029T=	NCBI36
NG_008341.1:g.28753A=
NG_008341.2:g.28753A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2024A= MANE Select	ENSP00000248633.4:p.Glu675=
ENST00000248633.8:c.2024A=	ENSP00000248633.4:p.Glu675=
ENST00000428214.5:n.1900+1469A=	ENSP00000394413.1:p.=
ENST00000438045.5:c.1058A=	ENSP00000410438.1:p.Glu353=
ENST00000484913.5:n.2063A=
ENST00000496420.5:n.1700A=
NM_000466.2:c.2024A=	NP_000457.1:p.Glu675=
NM_001282677.1:c.1900+1469A=	NP_001269606.1:p.=
NM_001282678.1:c.1400A=	NP_001269607.1:p.Glu467=
XM_005250433.3:c.275A=	XP_005250490.1:p.Glu92=
XR_242246.3:n.2120A=
XM_017012319.2:c.275A=	XP_016867808.1:p.Glu92=
XR_001744808.2:n.1051A=
XR_242246.5:n.2071A=
NM_000466.3:c.2024A= MANE Select	NP_000457.1:p.Glu675=
NM_001282677.2:c.1900+1469A=	NP_001269606.1:p.=
NM_001282678.2:c.1400A=	NP_001269607.1:p.Glu467=