Canonical Allele Identifier: CA368202552
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1985426
ClinVar RCV Id: RCV002780739
dbSNP Id: rs1253386014
gnomAD v2: 7-92147548-C-T
gnomAD v4: 7-92518234-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518234C>T , CM000669.2:g.92518234C>T GRCh38
NC_000007.13:g.92147548C>T , CM000669.1:g.92147548C>T GRCh37
NC_000007.12:g.91985484C>T NCBI36
NG_008341.1:g.15298G>A
NG_008341.2:g.15298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.379G>A MANE Select ENSP00000248633.4:p.Glu127Lys
ENST00000248633.8:c.379G>A ENSP00000248633.4:p.Glu127Lys
ENST00000428214.5:c.379G>A ENSP00000394413.1:p.Glu127Lys
ENST00000438045.5:c.273+3868G>A ENSP00000410438.1:n.273+3868G>A
ENST00000484913.5:n.418G>A
NM_000466.2:c.379G>A NP_000457.1:p.Glu127Lys
NM_001282677.1:c.379G>A NP_001269606.1:p.Glu127Lys
NM_001282678.1:c.-246G>A NP_001269607.1:n.-246G>A
XR_242246.3:n.475G>A
XR_242246.5:n.426G>A
NM_000466.3:c.379G>A MANE Select NP_000457.1:p.Glu127Lys
NM_001282677.2:c.379G>A NP_001269606.1:p.Glu127Lys
NM_001282678.2:c.-246G>A NP_001269607.1:n.-246G>A