Canonical Allele Identifier: CA1725937805

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510949T= , CM000669.2:g.92510949T=	GRCh38
NC_000007.13:g.92140263T= , CM000669.1:g.92140263T=	GRCh37
NC_000007.12:g.91978199T=	NCBI36
NG_008341.1:g.22583A=
NG_008341.2:g.22583A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1582A= MANE Select	ENSP00000248633.4:p.Ile528=
ENST00000248633.8:c.1582A=	ENSP00000248633.4:p.Ile528=
ENST00000422866.1:c.483A=
ENST00000428214.5:c.1582A=	ENSP00000394413.1:p.Ile528=
ENST00000438045.5:c.616A=	ENSP00000410438.1:p.Ile206=
ENST00000476923.1:n.343A=
ENST00000484913.5:n.1621A=
NM_000466.2:c.1582A=	NP_000457.1:p.Ile528=
NM_001282677.1:c.1582A=	NP_001269606.1:p.Ile528=
NM_001282678.1:c.958A=	NP_001269607.1:p.Ile320=
XM_005250433.3:c.-85A=	XP_005250490.1:n.-85A=
XR_242246.3:n.1678A=
XM_017012319.2:c.-85A=	XP_016867808.1:n.-85A=
XR_001744808.2:n.692A=
XR_242246.5:n.1629A=
NM_000466.3:c.1582A= MANE Select	NP_000457.1:p.Ile528=
NM_001282677.2:c.1582A=	NP_001269606.1:p.Ile528=
NM_001282678.2:c.958A=	NP_001269607.1:p.Ile320=