Canonical Allele Identifier: CA1725938909

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504813G= , CM000669.2:g.92504813G=	GRCh38
NC_000007.13:g.92134127G= , CM000669.1:g.92134127G=	GRCh37
NC_000007.12:g.91972063G=	NCBI36
NG_008341.1:g.28719C=
NG_008341.2:g.28719C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1990C= MANE Select	ENSP00000248633.4:p.Leu664=
ENST00000248633.8:c.1990C=	ENSP00000248633.4:p.Leu664=
ENST00000428214.5:c.1900+1435C=	ENSP00000394413.1:n.1900+1435C=
ENST00000438045.5:c.1024C=	ENSP00000410438.1:p.Leu342=
ENST00000484913.5:n.2029C=
ENST00000496420.5:n.1666C=
NM_000466.2:c.1990C=	NP_000457.1:p.Leu664=
NM_001282677.1:c.1900+1435C=	NP_001269606.1:n.1900+1435C=
NM_001282678.1:c.1366C=	NP_001269607.1:p.Leu456=
XM_005250433.3:c.241C=	XP_005250490.1:p.Leu81=
XR_242246.3:n.2086C=
XM_017012319.2:c.241C=	XP_016867808.1:p.Leu81=
XR_001744808.2:n.1017C=
XR_242246.5:n.2037C=
NM_000466.3:c.1990C= MANE Select	NP_000457.1:p.Leu664=
NM_001282677.2:c.1900+1435C=	NP_001269606.1:n.1900+1435C=
NM_001282678.2:c.1366C=	NP_001269607.1:p.Leu456=