Canonical Allele Identifier: CA1725948267

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518002A= , CM000669.2:g.92518002A=	GRCh38
NC_000007.13:g.92147316A= , CM000669.1:g.92147316A=	GRCh37
NC_000007.12:g.91985252A=	NCBI36
NG_008341.1:g.15530T=
NG_008341.2:g.15530T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.513T= MANE Select	ENSP00000248633.4:p.Thr171=
ENST00000248633.8:c.513T=	ENSP00000248633.4:p.Thr171=
ENST00000428214.5:c.513T=	ENSP00000394413.1:p.Thr171=
ENST00000438045.5:c.274-4035T=	ENSP00000410438.1:n.274-4035T=
ENST00000484913.5:n.552T=
NM_000466.2:c.513T=	NP_000457.1:p.Thr171=
NM_001282677.1:c.513T=	NP_001269606.1:p.Thr171=
NM_001282678.1:c.-112T=	NP_001269607.1:n.-112T=
XR_242246.3:n.609T=
XR_242246.5:n.560T=
NM_000466.3:c.513T= MANE Select	NP_000457.1:p.Thr171=
NM_001282677.2:c.513T=	NP_001269606.1:p.Thr171=
NM_001282678.2:c.-112T=	NP_001269607.1:n.-112T=