Canonical Allele Identifier: CA115374
Gene: PEX26 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.18078510T>C
GRCh37 chr22:g.18561276T>C
Revel Score:
ENST00000329627 0.726
ENST00000399744 (MANE Select) 0.726
ENST00000428061 0.726
ENST00000399746 0.726
gnomAD v2:
22:18561276 T / C
gnomAD v4:
chr22-18078510-T-C
Joint Max Group AF 0.00000508 (NFE)
Exomes Max Group AF 0.0000054 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18078510T>C , CM000684.2:g.18078510T>C GRCh38
NC_000022.10:g.18561276T>C , CM000684.1:g.18561276T>C GRCh37
NC_000022.9:g.16941276T>C NCBI36
NG_008339.1:g.5591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.134T>C MANE Select ENSP00000382648.4:p.Leu45Pro
ENST00000474897.6:c.134T>C ENSP00000434235.2:p.Leu45Pro
ENST00000329627.11:c.134T>C ENSP00000331106.5:p.Leu45Pro
ENST00000399744.7:c.134T>C ENSP00000382648.3:p.Leu45Pro
ENST00000428061.2:c.134T>C ENSP00000412441.2:p.Leu45Pro
ENST00000474897.5:c.134T>C ENSP00000434235.1:p.Leu45Pro
ENST00000610387.4:c.134T>C ENSP00000482091.1:p.Leu45Pro
NM_001127649.2:c.134T>C NP_001121121.1:p.Leu45Pro
NM_001199319.1:c.134T>C NP_001186248.1:p.Leu45Pro
NM_017929.5:c.134T>C NP_060399.1:p.Leu45Pro
NM_001127649.3:c.134T>C MANE Select NP_001121121.1:p.Leu45Pro
NM_001199319.2:c.134T>C NP_001186248.1:p.Leu45Pro
NM_017929.6:c.134T>C NP_060399.1:p.Leu45Pro
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