Canonical Allele Identifier: CA1725935200

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499831T= , CM000669.2:g.92499831T=	GRCh38
NC_000007.13:g.92129145T= , CM000669.1:g.92129145T=	GRCh37
NC_000007.12:g.91967081T=	NCBI36
NG_008341.1:g.33701A=
NG_008341.2:g.33701A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2591A= MANE Select	ENSP00000248633.4:p.Glu864=
ENST00000248633.8:c.2591A=	ENSP00000248633.4:p.Glu864=
ENST00000428214.5:c.2420A=	ENSP00000394413.1:p.Glu807=
ENST00000438045.5:c.1625A=	ENSP00000410438.1:p.Glu542=
ENST00000484913.5:n.2630A=
ENST00000496420.5:n.2483A=
NM_000466.2:c.2591A=	NP_000457.1:p.Glu864=
NM_001282677.1:c.2420A=	NP_001269606.1:p.Glu807=
NM_001282678.1:c.1967A=	NP_001269607.1:p.Glu656=
XM_005250433.3:c.842A=	XP_005250490.1:p.Glu281=
XR_242246.3:n.2687A=
XM_017012319.2:c.842A=	XP_016867808.1:p.Glu281=
XR_001744808.2:n.1618A=
XR_242246.5:n.2638A=
NM_000466.3:c.2591A= MANE Select	NP_000457.1:p.Glu864=
NM_001282677.2:c.2420A=	NP_001269606.1:p.Glu807=
NM_001282678.2:c.1967A=	NP_001269607.1:p.Glu656=