Canonical Allele Identifier: CA1725948334
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518063A= , CM000669.2:g.92518063A= GRCh38
NC_000007.13:g.92147377A= , CM000669.1:g.92147377A= GRCh37
NC_000007.12:g.91985313A= NCBI36
NG_008341.1:g.15469T=
NG_008341.2:g.15469T=

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.473-21T= MANE Select ENSP00000248633.4:n.473-21T=
ENST00000248633.8:c.473-21T= ENSP00000248633.4:n.473-21T=
ENST00000428214.5:c.473-21T= ENSP00000394413.1:n.473-21T=
ENST00000438045.5:c.273+4039T= ENSP00000410438.1:n.273+4039T=
ENST00000484913.5:n.512-21T=
NM_000466.2:c.473-21T= NP_000457.1:n.473-21T=
NM_001282677.1:c.473-21T= NP_001269606.1:n.473-21T=
NM_001282678.1:c.-152-21T= NP_001269607.1:n.-152-21T=
XR_242246.3:n.569-21T=
XR_242246.5:n.520-21T=
NM_000466.3:c.473-21T= MANE Select NP_000457.1:n.473-21T=
NM_001282677.2:c.473-21T= NP_001269606.1:n.473-21T=
NM_001282678.2:c.-152-21T= NP_001269607.1:n.-152-21T=