Canonical Allele Identifier: CA1725951669

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522201C= , CM000669.2:g.92522201C=	GRCh38
NC_000007.13:g.92151515C= , CM000669.1:g.92151515C=	GRCh37
NC_000007.12:g.91989451C=	NCBI36
NG_008341.1:g.11331G=
NG_008341.2:g.11331G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.174G= MANE Select	ENSP00000248633.4:p.Leu58=
ENST00000248633.8:c.174G=	ENSP00000248633.4:p.Leu58=
ENST00000428214.5:c.174G=	ENSP00000394413.1:p.Leu58=
ENST00000438045.5:c.174G=	ENSP00000410438.1:p.Leu58=
ENST00000484913.5:n.178G=
NM_000466.2:c.174G=	NP_000457.1:p.Leu58=
NM_001282677.1:c.174G=	NP_001269606.1:p.Leu58=
NM_001282678.1:c.-486G=	NP_001269607.1:n.-486G=
XR_242246.3:n.270G=
XR_242246.5:n.221G=
NM_000466.3:c.174G= MANE Select	NP_000457.1:p.Leu58=
NM_001282677.2:c.174G=	NP_001269606.1:p.Leu58=
NM_001282678.2:c.-486G=	NP_001269607.1:n.-486G=