Canonical Allele Identifier: CA161964536
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928942
dbSNP Id: rs267608177
gnomAD v2: 7-92134045-C-A
gnomAD v3: 7-92504731-C-A
gnomAD v4: 7-92504731-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504731C>A , CM000669.2:g.92504731C>A GRCh38
NC_000007.13:g.92134045C>A , CM000669.1:g.92134045C>A GRCh37
NC_000007.12:g.91971981C>A NCBI36
NG_008341.1:g.28801G>T
NG_008341.2:g.28801G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2071+1G>T MANE Select ENSP00000248633.4:n.2071+1G>T
ENST00000248633.8:c.2071+1G>T ENSP00000248633.4:n.2071+1G>T
ENST00000428214.5:c.1900+1517G>T ENSP00000394413.1:n.1900+1517G>T
ENST00000438045.5:c.1105+1G>T ENSP00000410438.1:n.1105+1G>T
ENST00000484913.5:n.2110+1G>T
ENST00000496420.5:n.1747+1G>T
NM_000466.2:c.2071+1G>T NP_000457.1:n.2071+1G>T
NM_001282677.1:c.1900+1517G>T NP_001269606.1:n.1900+1517G>T
NM_001282678.1:c.1447+1G>T NP_001269607.1:n.1447+1G>T
XM_005250433.3:c.322+1G>T XP_005250490.1:n.322+1G>T
XR_242246.3:n.2167+1G>T
XM_017012319.2:c.322+1G>T XP_016867808.1:n.322+1G>T
XR_001744808.2:n.1098+1G>T
XR_242246.5:n.2118+1G>T
NM_000466.3:c.2071+1G>T MANE Select NP_000457.1:n.2071+1G>T
NM_001282677.2:c.1900+1517G>T NP_001269606.1:n.1900+1517G>T
NM_001282678.2:c.1447+1G>T NP_001269607.1:n.1447+1G>T