Canonical Allele Identifier: CA1725935179

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499780C= , CM000669.2:g.92499780C=	GRCh38
NC_000007.13:g.92129094C= , CM000669.1:g.92129094C=	GRCh37
NC_000007.12:g.91967030C=	NCBI36
NG_008341.1:g.33752G=
NG_008341.2:g.33752G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2642G= MANE Select	ENSP00000248633.4:p.Gly881=
ENST00000248633.8:c.2642G=	ENSP00000248633.4:p.Gly881=
ENST00000428214.5:c.2471G=	ENSP00000394413.1:p.Gly824=
ENST00000438045.5:c.1676G=	ENSP00000410438.1:p.Gly559=
ENST00000484913.5:n.2681G=
ENST00000496420.5:n.2534G=
NM_000466.2:c.2642G=	NP_000457.1:p.Gly881=
NM_001282677.1:c.2471G=	NP_001269606.1:p.Gly824=
NM_001282678.1:c.2018G=	NP_001269607.1:p.Gly673=
XM_005250433.3:c.893G=	XP_005250490.1:p.Gly298=
XR_242246.3:n.2738G=
XM_017012319.2:c.893G=	XP_016867808.1:p.Gly298=
XR_001744808.2:n.1669G=
XR_242246.5:n.2689G=
NM_000466.3:c.2642G= MANE Select	NP_000457.1:p.Gly881=
NM_001282677.2:c.2471G=	NP_001269606.1:p.Gly824=
NM_001282678.2:c.2018G=	NP_001269607.1:p.Gly673=