Canonical Allele Identifier: CA1725947631

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517635G= , CM000669.2:g.92517635G=	GRCh38
NC_000007.13:g.92146949G= , CM000669.1:g.92146949G=	GRCh37
NC_000007.12:g.91984885G=	NCBI36
NG_008341.1:g.15897C=
NG_008341.2:g.15897C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.880C= MANE Select	ENSP00000248633.4:p.Pro294=
ENST00000248633.8:c.880C=	ENSP00000248633.4:p.Pro294=
ENST00000428214.5:c.880C=	ENSP00000394413.1:p.Pro294=
ENST00000438045.5:c.274-3668C=	ENSP00000410438.1:n.274-3668C=
ENST00000484913.5:n.919C=
NM_000466.2:c.880C=	NP_000457.1:p.Pro294=
NM_001282677.1:c.880C=	NP_001269606.1:p.Pro294=
NM_001282678.1:c.256C=	NP_001269607.1:p.Pro86=
XR_242246.3:n.976C=
XR_242246.5:n.927C=
NM_000466.3:c.880C= MANE Select	NP_000457.1:p.Pro294=
NM_001282677.2:c.880C=	NP_001269606.1:p.Pro294=
NM_001282678.2:c.256C=	NP_001269607.1:p.Pro86=