Canonical Allele Identifier: CA1725948376

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518096T= , CM000669.2:g.92518096T=	GRCh38
NC_000007.13:g.92147410T= , CM000669.1:g.92147410T=	GRCh37
NC_000007.12:g.91985346T=	NCBI36
NG_008341.1:g.15436A=
NG_008341.2:g.15436A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.472+45A= MANE Select	ENSP00000248633.4:n.472+45A=
ENST00000248633.8:c.472+45A=	ENSP00000248633.4:n.472+45A=
ENST00000428214.5:c.472+45A=	ENSP00000394413.1:n.472+45A=
ENST00000438045.5:c.273+4006A=	ENSP00000410438.1:n.273+4006A=
ENST00000484913.5:n.511+45A=
NM_000466.2:c.472+45A=	NP_000457.1:n.472+45A=
NM_001282677.1:c.472+45A=	NP_001269606.1:n.472+45A=
NM_001282678.1:c.-153+45A=	NP_001269607.1:n.-153+45A=
XR_242246.3:n.568+45A=
XR_242246.5:n.519+45A=
NM_000466.3:c.472+45A= MANE Select	NP_000457.1:n.472+45A=
NM_001282677.2:c.472+45A=	NP_001269606.1:n.472+45A=
NM_001282678.2:c.-153+45A=	NP_001269607.1:n.-153+45A=