Canonical Allele Identifier: CA1725949285
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92519004C= , CM000669.2:g.92519004C= GRCh38
NC_000007.13:g.92148318C= , CM000669.1:g.92148318C= GRCh37
NC_000007.12:g.91986254C= NCBI36
NG_008341.1:g.14528G=
NG_008341.2:g.14528G=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.348G= MANE Select ENSP00000248633.4:p.Trp116=
ENST00000248633.8:c.348G= ENSP00000248633.4:p.Trp116=
ENST00000428214.5:c.348G= ENSP00000394413.1:p.Trp116=
ENST00000438045.5:c.273+3098G= ENSP00000410438.1:n.273+3098G=
ENST00000484913.5:n.352G=
NM_000466.2:c.348G= NP_000457.1:p.Trp116=
NM_001282677.1:c.348G= NP_001269606.1:p.Trp116=
NM_001282678.1:c.-312G= NP_001269607.1:n.-312G=
XR_242246.3:n.444G=
XR_242246.5:n.395G=
NM_000466.3:c.348G= MANE Select NP_000457.1:p.Trp116=
NM_001282677.2:c.348G= NP_001269606.1:p.Trp116=
NM_001282678.2:c.-312G= NP_001269607.1:n.-312G=