Canonical Allele Identifier: CA3148768184

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517951T= , CM000669.2:g.92517951T=	GRCh38
NC_000007.13:g.92147265T= , CM000669.1:g.92147265T=	GRCh37
NC_000007.12:g.91985201T=	NCBI36
NG_008341.1:g.15581A=
NG_008341.2:g.15581A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.564A= MANE Select	NP_000457.1:p.Thr188=
ENST00000248633.9:c.564A= MANE Select	ENSP00000248633.4:p.Thr188=
NM_000466.2:c.564A=	NP_000457.1:p.Thr188=
NM_001282677.1:c.564A=	NP_001269606.1:p.Thr188=
NM_001282677.2:c.564A=	NP_001269606.1:p.Thr188=
NM_001282678.1:c.-61A=	NP_001269607.1:n.-61A=
NM_001282678.2:c.-61A=	NP_001269607.1:n.-61A=
ENST00000248633.8:c.564A=	ENSP00000248633.4:p.Thr188=
ENST00000428214.5:c.564A=	ENSP00000394413.1:p.Thr188=
ENST00000438045.5:c.274-3984A=	ENSP00000410438.1:n.274-3984A=
ENST00000484913.5:n.603A=
XR_242246.3:n.660A=
XR_242246.5:n.611A=