Canonical Allele Identifier: CA1725947881

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517788C= , CM000669.2:g.92517788C=	GRCh38
NC_000007.13:g.92147102C= , CM000669.1:g.92147102C=	GRCh37
NC_000007.12:g.91985038C=	NCBI36
NG_008341.1:g.15744G=
NG_008341.2:g.15744G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.727G= MANE Select	ENSP00000248633.4:p.Ala243=
ENST00000248633.8:c.727G=	ENSP00000248633.4:p.Ala243=
ENST00000428214.5:c.727G=	ENSP00000394413.1:p.Ala243=
ENST00000438045.5:c.274-3821G=	ENSP00000410438.1:n.274-3821G=
ENST00000484913.5:n.766G=
NM_000466.2:c.727G=	NP_000457.1:p.Ala243=
NM_001282677.1:c.727G=	NP_001269606.1:p.Ala243=
NM_001282678.1:c.103G=	NP_001269607.1:p.Ala35=
XR_242246.3:n.823G=
XR_242246.5:n.774G=
NM_000466.3:c.727G= MANE Select	NP_000457.1:p.Ala243=
NM_001282677.2:c.727G=	NP_001269606.1:p.Ala243=
NM_001282678.2:c.103G=	NP_001269607.1:p.Ala35=