Canonical Allele Identifier: CA1725948480

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518166T= , CM000669.2:g.92518166T=	GRCh38
NC_000007.13:g.92147480T= , CM000669.1:g.92147480T=	GRCh37
NC_000007.12:g.91985416T=	NCBI36
NG_008341.1:g.15366A=
NG_008341.2:g.15366A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.447A= MANE Select	ENSP00000248633.4:p.Gln149=
ENST00000248633.8:c.447A=	ENSP00000248633.4:p.Gln149=
ENST00000428214.5:c.447A=	ENSP00000394413.1:p.Gln149=
ENST00000438045.5:c.273+3936A=	ENSP00000410438.1:n.273+3936A=
ENST00000484913.5:n.486A=
NM_000466.2:c.447A=	NP_000457.1:p.Gln149=
NM_001282677.1:c.447A=	NP_001269606.1:p.Gln149=
NM_001282678.1:c.-178A=	NP_001269607.1:n.-178A=
XR_242246.3:n.543A=
XR_242246.5:n.494A=
NM_000466.3:c.447A= MANE Select	NP_000457.1:p.Gln149=
NM_001282677.2:c.447A=	NP_001269606.1:p.Gln149=
NM_001282678.2:c.-178A=	NP_001269607.1:n.-178A=