Canonical Allele Identifier: CA115374

Gene: PEX26

Linked Data

• ClinVar Variation Id: 2157
• ClinVar RCV Id: RCV000002240 ; RCV000351940 ; RCV001298874
• dbSNP Id: rs61752132
• gnomAD v2: 22-18561276-T-C
• gnomAD v4: 22-18078510-T-C
• MyVariant Identifiers: chr22:g.18561276T>C (hg19) ; chr22:g.18078510T>C (hg38)
• PubMed: PMID:12851857 ; PMID:15858711 ; PMID:16257970 ; PMID:25016021

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