Canonical Allele Identifier: CA1725947733
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517687C= , CM000669.2:g.92517687C= GRCh38
NC_000007.13:g.92147001C= , CM000669.1:g.92147001C= GRCh37
NC_000007.12:g.91984937C= NCBI36
NG_008341.1:g.15845G=
NG_008341.2:g.15845G=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.828G= MANE Select ENSP00000248633.4:p.Met276=
ENST00000248633.8:c.828G= ENSP00000248633.4:p.Met276=
ENST00000428214.5:c.828G= ENSP00000394413.1:p.Met276=
ENST00000438045.5:c.274-3720G= ENSP00000410438.1:n.274-3720G=
ENST00000484913.5:n.867G=
NM_000466.2:c.828G= NP_000457.1:p.Met276=
NM_001282677.1:c.828G= NP_001269606.1:p.Met276=
NM_001282678.1:c.204G= NP_001269607.1:p.Met68=
XR_242246.3:n.924G=
XR_242246.5:n.875G=
NM_000466.3:c.828G= MANE Select NP_000457.1:p.Met276=
NM_001282677.2:c.828G= NP_001269606.1:p.Met276=
NM_001282678.2:c.204G= NP_001269607.1:p.Met68=