Canonical Allele Identifier: CA1725947644

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517648T= , CM000669.2:g.92517648T=	GRCh38
NC_000007.13:g.92146962T= , CM000669.1:g.92146962T=	GRCh37
NC_000007.12:g.91984898T=	NCBI36
NG_008341.1:g.15884A=
NG_008341.2:g.15884A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.867A= MANE Select	ENSP00000248633.4:p.Val289=
ENST00000248633.8:c.867A=	ENSP00000248633.4:p.Val289=
ENST00000428214.5:c.867A=	ENSP00000394413.1:p.Val289=
ENST00000438045.5:c.274-3681A=	ENSP00000410438.1:n.274-3681A=
ENST00000484913.5:n.906A=
NM_000466.2:c.867A=	NP_000457.1:p.Val289=
NM_001282677.1:c.867A=	NP_001269606.1:p.Val289=
NM_001282678.1:c.243A=	NP_001269607.1:p.Val81=
XR_242246.3:n.963A=
XR_242246.5:n.914A=
NM_000466.3:c.867A= MANE Select	NP_000457.1:p.Val289=
NM_001282677.2:c.867A=	NP_001269606.1:p.Val289=
NM_001282678.2:c.243A=	NP_001269607.1:p.Val81=