Canonical Allele Identifier: CA368171311
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346570
ClinVar RCV Id: RCV002030082
dbSNP Id: rs1791673946
gnomAD v3: 7-92496778-C-T
gnomAD v4: 7-92496778-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496778C>T , CM000669.2:g.92496778C>T GRCh38
NC_000007.13:g.92126092C>T , CM000669.1:g.92126092C>T GRCh37
NC_000007.12:g.91964028C>T NCBI36
NG_008341.1:g.36754G>A
NG_008341.2:g.36754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2719-1G>A MANE Select ENSP00000248633.4:n.2719-1G>A
ENST00000248633.8:c.2719-1G>A ENSP00000248633.4:n.2719-1G>A
ENST00000428214.5:c.2548-1G>A ENSP00000394413.1:n.2548-1G>A
ENST00000438045.5:c.1753-1G>A ENSP00000410438.1:n.1753-1G>A
ENST00000484913.5:n.2758-1G>A
ENST00000496420.5:n.2611-1G>A
NM_000466.2:c.2719-1G>A NP_000457.1:n.2719-1G>A
NM_001282677.1:c.2548-1G>A NP_001269606.1:n.2548-1G>A
NM_001282678.1:c.2095-1G>A NP_001269607.1:n.2095-1G>A
XM_005250433.3:c.970-1G>A XP_005250490.1:n.970-1G>A
XR_242246.3:n.2815-1G>A
XM_017012319.2:c.970-1G>A XP_016867808.1:n.970-1G>A
XR_001744808.2:n.1746-1G>A
XR_242246.5:n.2766-1G>A
NM_000466.3:c.2719-1G>A MANE Select NP_000457.1:n.2719-1G>A
NM_001282677.2:c.2548-1G>A NP_001269606.1:n.2548-1G>A
NM_001282678.2:c.2095-1G>A NP_001269607.1:n.2095-1G>A