Canonical Allele Identifier: CA1725947420

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517503G= , CM000669.2:g.92517503G=	GRCh38
NC_000007.13:g.92146817G= , CM000669.1:g.92146817G=	GRCh37
NC_000007.12:g.91984753G=	NCBI36
NG_008341.1:g.16029C=
NG_008341.2:g.16029C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1012C= MANE Select	ENSP00000248633.4:p.Leu338=
ENST00000248633.8:c.1012C=	ENSP00000248633.4:p.Leu338=
ENST00000428214.5:c.1012C=	ENSP00000394413.1:p.Leu338=
ENST00000438045.5:c.274-3536C=	ENSP00000410438.1:n.274-3536C=
ENST00000484913.5:n.1051C=
NM_000466.2:c.1012C=	NP_000457.1:p.Leu338=
NM_001282677.1:c.1012C=	NP_001269606.1:p.Leu338=
NM_001282678.1:c.388C=	NP_001269607.1:p.Leu130=
XR_242246.3:n.1108C=
XM_017012319.2:c.-655C=	XP_016867808.1:n.-655C=
XR_001744808.2:n.122C=
XR_242246.5:n.1059C=
NM_000466.3:c.1012C= MANE Select	NP_000457.1:p.Leu338=
NM_001282677.2:c.1012C=	NP_001269606.1:p.Leu338=
NM_001282678.2:c.388C=	NP_001269607.1:p.Leu130=