Canonical Allele Identifier: CA1725939129
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504882G= , CM000669.2:g.92504882G= GRCh38
NC_000007.13:g.92134196G= , CM000669.1:g.92134196G= GRCh37
NC_000007.12:g.91972132G= NCBI36
NG_008341.1:g.28650C=
NG_008341.2:g.28650C=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1921C= MANE Select ENSP00000248633.4:p.Gln641=
ENST00000248633.8:c.1921C= ENSP00000248633.4:p.Gln641=
ENST00000428214.5:c.1900+1366C= ENSP00000394413.1:n.1900+1366C=
ENST00000438045.5:c.955C= ENSP00000410438.1:p.Gln319=
ENST00000484913.5:n.1960C=
ENST00000496420.5:n.1597C=
NM_000466.2:c.1921C= NP_000457.1:p.Gln641=
NM_001282677.1:c.1900+1366C= NP_001269606.1:n.1900+1366C=
NM_001282678.1:c.1297C= NP_001269607.1:p.Gln433=
XM_005250433.3:c.172C= XP_005250490.1:p.Gln58=
XR_242246.3:n.2017C=
XM_017012319.2:c.172C= XP_016867808.1:p.Gln58=
XR_001744808.2:n.948C=
XR_242246.5:n.1968C=
NM_000466.3:c.1921C= MANE Select NP_000457.1:p.Gln641=
NM_001282677.2:c.1900+1366C= NP_001269606.1:n.1900+1366C=
NM_001282678.2:c.1297C= NP_001269607.1:p.Gln433=