Canonical Allele Identifier: CA1725948665
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518289T= , CM000669.2:g.92518289T= GRCh38
NC_000007.13:g.92147603T= , CM000669.1:g.92147603T= GRCh37
NC_000007.12:g.91985539T= NCBI36
NG_008341.1:g.15243A=
NG_008341.2:g.15243A=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.358-34A= MANE Select ENSP00000248633.4:n.358-34A=
ENST00000248633.8:c.358-34A= ENSP00000248633.4:n.358-34A=
ENST00000428214.5:c.358-34A= ENSP00000394413.1:n.358-34A=
ENST00000438045.5:c.273+3813A= ENSP00000410438.1:n.273+3813A=
ENST00000484913.5:n.397-34A=
NM_000466.2:c.358-34A= NP_000457.1:n.358-34A=
NM_001282677.1:c.358-34A= NP_001269606.1:n.358-34A=
NM_001282678.1:c.-267-34A= NP_001269607.1:n.-267-34A=
XR_242246.3:n.454-34A=
XR_242246.5:n.405-34A=
NM_000466.3:c.358-34A= MANE Select NP_000457.1:n.358-34A=
NM_001282677.2:c.358-34A= NP_001269606.1:n.358-34A=
NM_001282678.2:c.-267-34A= NP_001269607.1:n.-267-34A=