Canonical Allele Identifier: CA115367
Gene: PEX26 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152
ClinVar RCV Id: RCV000002234 RCV000402285 RCV000780589 RCV000812717 RCV003390634 RCV003472958
dbSNP Id: rs62641228
ExAC: 22:18562701 C / T
gnomAD v2: 22-18562701-C-T
gnomAD v3: 22-18079935-C-T
gnomAD v4: 22-18079935-C-T
COSMIC: COSM725635
MyVariant Identifiers: chr22:g.18562701C>T (hg19) chr22:g.18079935C>T (hg38)
PubMed: PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18079935C>T , CM000684.2:g.18079935C>T GRCh38
NC_000022.10:g.18562701C>T , CM000684.1:g.18562701C>T GRCh37
NC_000022.9:g.16942701C>T NCBI36
NG_008339.1:g.7016C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399744.8:c.292C>T MANE Select ENSP00000382648.4:p.Arg98Trp
ENST00000474897.6:c.292C>T ENSP00000434235.2:p.Arg98Trp
ENST00000329627.11:c.292C>T ENSP00000331106.5:p.Arg98Trp
ENST00000399744.7:c.292C>T ENSP00000382648.3:p.Arg98Trp
ENST00000428061.2:c.292C>T ENSP00000412441.2:p.Arg98Trp
ENST00000474897.5:c.292C>T ENSP00000434235.1:p.Arg98Trp
ENST00000610387.4:c.292C>T ENSP00000482091.1:p.Arg98Trp
NM_001127649.2:c.292C>T NP_001121121.1:p.Arg98Trp
NM_001199319.1:c.292C>T NP_001186248.1:p.Arg98Trp
NM_017929.5:c.292C>T NP_060399.1:p.Arg98Trp
NM_001127649.3:c.292C>T MANE Select NP_001121121.1:p.Arg98Trp
NM_001199319.2:c.292C>T NP_001186248.1:p.Arg98Trp
NM_017929.6:c.292C>T NP_060399.1:p.Arg98Trp
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