Canonical Allele Identifier: CA1725936077

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501899T= , CM000669.2:g.92501899T=	GRCh38
NC_000007.13:g.92131213T= , CM000669.1:g.92131213T=	GRCh37
NC_000007.12:g.91969149T=	NCBI36
NG_008341.1:g.31633A=
NG_008341.2:g.31633A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2407A= MANE Select	ENSP00000248633.4:p.Thr803=
ENST00000248633.8:c.2407A=	ENSP00000248633.4:p.Thr803=
ENST00000428214.5:c.2236A=	ENSP00000394413.1:p.Thr746=
ENST00000438045.5:c.1441A=	ENSP00000410438.1:p.Thr481=
ENST00000484913.5:n.2446A=
ENST00000496092.1:n.205A=
ENST00000496420.5:n.2083A=
NM_000466.2:c.2407A=	NP_000457.1:p.Thr803=
NM_001282677.1:c.2236A=	NP_001269606.1:p.Thr746=
NM_001282678.1:c.1783A=	NP_001269607.1:p.Thr595=
XM_005250433.3:c.658A=	XP_005250490.1:p.Thr220=
XR_242246.3:n.2503A=
XM_017012319.2:c.658A=	XP_016867808.1:p.Thr220=
XR_001744808.2:n.1434A=
XR_242246.5:n.2454A=
NM_000466.3:c.2407A= MANE Select	NP_000457.1:p.Thr803=
NM_001282677.2:c.2236A=	NP_001269606.1:p.Thr746=
NM_001282678.2:c.1783A=	NP_001269607.1:p.Thr595=