Canonical Allele Identifier: CA1725948616
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518263C= , CM000669.2:g.92518263C= GRCh38
NC_000007.13:g.92147577C= , CM000669.1:g.92147577C= GRCh37
NC_000007.12:g.91985513C= NCBI36
NG_008341.1:g.15269G=
NG_008341.2:g.15269G=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.358-8G= MANE Select ENSP00000248633.4:n.358-8G=
ENST00000248633.8:c.358-8G= ENSP00000248633.4:n.358-8G=
ENST00000428214.5:c.358-8G= ENSP00000394413.1:n.358-8G=
ENST00000438045.5:c.273+3839G= ENSP00000410438.1:n.273+3839G=
ENST00000484913.5:n.397-8G=
NM_000466.2:c.358-8G= NP_000457.1:n.358-8G=
NM_001282677.1:c.358-8G= NP_001269606.1:n.358-8G=
NM_001282678.1:c.-267-8G= NP_001269607.1:n.-267-8G=
XR_242246.3:n.454-8G=
XR_242246.5:n.405-8G=
NM_000466.3:c.358-8G= MANE Select NP_000457.1:n.358-8G=
NM_001282677.2:c.358-8G= NP_001269606.1:n.358-8G=
NM_001282678.2:c.-267-8G= NP_001269607.1:n.-267-8G=