Canonical Allele Identifier: CA4341140
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494928
ClinVar RCV Id: RCV002015133
dbSNP Id: rs61750419
gnomAD v2: 7-92131228-G-A
gnomAD v3: 7-92501914-G-A
gnomAD v4: 7-92501914-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92501914G>A , CM000669.2:g.92501914G>A GRCh38
NC_000007.13:g.92131228G>A , CM000669.1:g.92131228G>A GRCh37
NC_000007.12:g.91969164G>A NCBI36
NG_008341.1:g.31618C>T
NG_008341.2:g.31618C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2392C>T MANE Select ENSP00000248633.4:p.Arg798Cys
ENST00000248633.8:c.2392C>T ENSP00000248633.4:p.Arg798Cys
ENST00000428214.5:c.2221C>T ENSP00000394413.1:p.Arg741Cys
ENST00000438045.5:c.1426C>T ENSP00000410438.1:p.Arg476Cys
ENST00000484913.5:n.2431C>T
ENST00000496092.1:n.190C>T
ENST00000496420.5:n.2068C>T
NM_000466.2:c.2392C>T NP_000457.1:p.Arg798Cys
NM_001282677.1:c.2221C>T NP_001269606.1:p.Arg741Cys
NM_001282678.1:c.1768C>T NP_001269607.1:p.Arg590Cys
XM_005250433.3:c.643C>T XP_005250490.1:p.Arg215Cys
XR_242246.3:n.2488C>T
XM_017012319.2:c.643C>T XP_016867808.1:p.Arg215Cys
XR_001744808.2:n.1419C>T
XR_242246.5:n.2439C>T
NM_000466.3:c.2392C>T MANE Select NP_000457.1:p.Arg798Cys
NM_001282677.2:c.2221C>T NP_001269606.1:p.Arg741Cys
NM_001282678.2:c.1768C>T NP_001269607.1:p.Arg590Cys