Canonical Allele Identifier: CA1725948588

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518250C= , CM000669.2:g.92518250C=	GRCh38
NC_000007.13:g.92147564C= , CM000669.1:g.92147564C=	GRCh37
NC_000007.12:g.91985500C=	NCBI36
NG_008341.1:g.15282G=
NG_008341.2:g.15282G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.363G= MANE Select	ENSP00000248633.4:p.Leu121=
ENST00000248633.8:c.363G=	ENSP00000248633.4:p.Leu121=
ENST00000428214.5:c.363G=	ENSP00000394413.1:p.Leu121=
ENST00000438045.5:c.273+3852G=	ENSP00000410438.1:n.273+3852G=
ENST00000484913.5:n.402G=
NM_000466.2:c.363G=	NP_000457.1:p.Leu121=
NM_001282677.1:c.363G=	NP_001269606.1:p.Leu121=
NM_001282678.1:c.-262G=	NP_001269607.1:n.-262G=
XR_242246.3:n.459G=
XR_242246.5:n.410G=
NM_000466.3:c.363G= MANE Select	NP_000457.1:p.Leu121=
NM_001282677.2:c.363G=	NP_001269606.1:p.Leu121=
NM_001282678.2:c.-262G=	NP_001269607.1:n.-262G=