Canonical Allele Identifier: CA368202117
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518165G>A , CM000669.2:g.92518165G>A GRCh38
NC_000007.13:g.92147479G>A , CM000669.1:g.92147479G>A GRCh37
NC_000007.12:g.91985415G>A NCBI36
NG_008341.1:g.15367C>T
NG_008341.2:g.15367C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.448C>T MANE Select ENSP00000248633.4:p.Gln150Ter
ENST00000248633.8:c.448C>T ENSP00000248633.4:p.Gln150Ter
ENST00000428214.5:c.448C>T ENSP00000394413.1:p.Gln150Ter
ENST00000438045.5:c.273+3937C>T ENSP00000410438.1:n.273+3937C>T
ENST00000484913.5:n.487C>T
NM_000466.2:c.448C>T NP_000457.1:p.Gln150Ter
NM_001282677.1:c.448C>T NP_001269606.1:p.Gln150Ter
NM_001282678.1:c.-177C>T NP_001269607.1:n.-177C>T
XR_242246.3:n.544C>T
XR_242246.5:n.495C>T
NM_000466.3:c.448C>T MANE Select NP_000457.1:p.Gln150Ter
NM_001282677.2:c.448C>T NP_001269606.1:p.Gln150Ter
NM_001282678.2:c.-177C>T NP_001269607.1:n.-177C>T