Canonical Allele Identifier: CA410265381

Gene: PEX26

Linked Data

• ClinVar Variation Id: 2004466
• ClinVar RCV Id: RCV002828286
• dbSNP Id: rs1256569587
• gnomAD v2: 22-18561366-C-T
• gnomAD v4: 22-18078600-C-T
• COSMIC: COSM6378408
• MyVariant Identifiers: chr22:g.18561366C>T (hg19) ; chr22:g.18078600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078600C>T , CM000684.2:g.18078600C>T	GRCh38
NC_000022.10:g.18561366C>T , CM000684.1:g.18561366C>T	GRCh37
NC_000022.9:g.16941366C>T	NCBI36
NG_008339.1:g.5681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.224C>T MANE Select	ENSP00000382648.4:p.Ala75Val
ENST00000474897.6:c.224C>T	ENSP00000434235.2:p.Ala75Val
ENST00000329627.11:c.224C>T	ENSP00000331106.5:p.Ala75Val
ENST00000399744.7:c.224C>T	ENSP00000382648.3:p.Ala75Val
ENST00000428061.2:c.224C>T	ENSP00000412441.2:p.Ala75Val
ENST00000474897.5:c.224C>T	ENSP00000434235.1:p.Ala75Val
ENST00000610387.4:c.224C>T	ENSP00000482091.1:p.Ala75Val
NM_001127649.2:c.224C>T	NP_001121121.1:p.Ala75Val
NM_001199319.1:c.224C>T	NP_001186248.1:p.Ala75Val
NM_017929.5:c.224C>T	NP_060399.1:p.Ala75Val
NM_001127649.3:c.224C>T MANE Select	NP_001121121.1:p.Ala75Val
NM_001199319.2:c.224C>T	NP_001186248.1:p.Ala75Val
NM_017929.6:c.224C>T	NP_060399.1:p.Ala75Val