Canonical Allele Identifier: CA1725948563

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518228G= , CM000669.2:g.92518228G=	GRCh38
NC_000007.13:g.92147542G= , CM000669.1:g.92147542G=	GRCh37
NC_000007.12:g.91985478G=	NCBI36
NG_008341.1:g.15304C=
NG_008341.2:g.15304C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.385C= MANE Select	ENSP00000248633.4:p.His129=
ENST00000248633.8:c.385C=	ENSP00000248633.4:p.His129=
ENST00000428214.5:c.385C=	ENSP00000394413.1:p.His129=
ENST00000438045.5:c.273+3874C=	ENSP00000410438.1:n.273+3874C=
ENST00000484913.5:n.424C=
NM_000466.2:c.385C=	NP_000457.1:p.His129=
NM_001282677.1:c.385C=	NP_001269606.1:p.His129=
NM_001282678.1:c.-240C=	NP_001269607.1:n.-240C=
XR_242246.3:n.481C=
XR_242246.5:n.432C=
NM_000466.3:c.385C= MANE Select	NP_000457.1:p.His129=
NM_001282677.2:c.385C=	NP_001269606.1:p.His129=
NM_001282678.2:c.-240C=	NP_001269607.1:n.-240C=