Canonical Allele Identifier: CA1725936154

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502072C= , CM000669.2:g.92502072C=	GRCh38
NC_000007.13:g.92131386C= , CM000669.1:g.92131386C=	GRCh37
NC_000007.12:g.91969322C=	NCBI36
NG_008341.1:g.31460G=
NG_008341.2:g.31460G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2234G= MANE Select	ENSP00000248633.4:p.Arg745=
ENST00000248633.8:c.2234G=	ENSP00000248633.4:p.Arg745=
ENST00000428214.5:c.2063G=	ENSP00000394413.1:p.Arg688=
ENST00000438045.5:c.1268G=	ENSP00000410438.1:p.Arg423=
ENST00000484913.5:n.2273G=
ENST00000496092.1:n.32G=
ENST00000496420.5:n.1910G=
NM_000466.2:c.2234G=	NP_000457.1:p.Arg745=
NM_001282677.1:c.2063G=	NP_001269606.1:p.Arg688=
NM_001282678.1:c.1610G=	NP_001269607.1:p.Arg537=
XM_005250433.3:c.485G=	XP_005250490.1:p.Arg162=
XR_242246.3:n.2330G=
XM_017012319.2:c.485G=	XP_016867808.1:p.Arg162=
XR_001744808.2:n.1261G=
XR_242246.5:n.2281G=
NM_000466.3:c.2234G= MANE Select	NP_000457.1:p.Arg745=
NM_001282677.2:c.2063G=	NP_001269606.1:p.Arg688=
NM_001282678.2:c.1610G=	NP_001269607.1:p.Arg537=