Canonical Allele Identifier: CA115367
Gene: PEX26 HGNC NCBI
COSMIC:
COSM725635
MyVariant.info:
GRCh38 chr22:g.18079935C>T
GRCh37 chr22:g.18562701C>T
Revel Score:
ENST00000329627 0.896
ENST00000399744 (MANE Select) 0.896
ENST00000428061 0.896
ENST00000399746 0.896
gnomAD v2:
22:18562701 C / T
gnomAD v3:
22:18079935 C / T
gnomAD v4:
chr22-18079935-C-T
Joint Max Group AF 0.00009358 (NFE)
Genomes Max Group AF 0.0000791 (NFE)
Exomes Max Group AF 0.00009115 (NFE)
JSON-LD

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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