Canonical Allele Identifier: CA1725947454

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517528A= , CM000669.2:g.92517528A=	GRCh38
NC_000007.13:g.92146842A= , CM000669.1:g.92146842A=	GRCh37
NC_000007.12:g.91984778A=	NCBI36
NG_008341.1:g.16004T=
NG_008341.2:g.16004T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.987T= MANE Select	ENSP00000248633.4:p.Thr329=
ENST00000248633.8:c.987T=	ENSP00000248633.4:p.Thr329=
ENST00000428214.5:c.987T=	ENSP00000394413.1:p.Thr329=
ENST00000438045.5:c.274-3561T=	ENSP00000410438.1:n.274-3561T=
ENST00000484913.5:n.1026T=
NM_000466.2:c.987T=	NP_000457.1:p.Thr329=
NM_001282677.1:c.987T=	NP_001269606.1:p.Thr329=
NM_001282678.1:c.363T=	NP_001269607.1:p.Thr121=
XR_242246.3:n.1083T=
XM_017012319.2:c.-680T=	XP_016867808.1:n.-680T=
XR_001744808.2:n.97T=
XR_242246.5:n.1034T=
NM_000466.3:c.987T= MANE Select	NP_000457.1:p.Thr329=
NM_001282677.2:c.987T=	NP_001269606.1:p.Thr329=
NM_001282678.2:c.363T=	NP_001269607.1:p.Thr121=