Canonical Allele Identifier: CA410264592

Gene: PEX26

Linked Data

• ClinVar Variation Id: 1499561
• ClinVar RCV Id: RCV002010748
• dbSNP Id: rs1926397048
• COSMIC: COSM3552073
• MyVariant Identifiers: chr22:g.18561251C>T (hg19) ; chr22:g.18078485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078485C>T , CM000684.2:g.18078485C>T	GRCh38
NC_000022.10:g.18561251C>T , CM000684.1:g.18561251C>T	GRCh37
NC_000022.9:g.16941251C>T	NCBI36
NG_008339.1:g.5566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.109C>T MANE Select	ENSP00000382648.4:p.Leu37Phe
ENST00000474897.6:c.109C>T	ENSP00000434235.2:p.Leu37Phe
ENST00000329627.11:c.109C>T	ENSP00000331106.5:p.Leu37Phe
ENST00000399744.7:c.109C>T	ENSP00000382648.3:p.Leu37Phe
ENST00000428061.2:c.109C>T	ENSP00000412441.2:p.Leu37Phe
ENST00000474897.5:c.109C>T	ENSP00000434235.1:p.Leu37Phe
ENST00000610387.4:c.109C>T	ENSP00000482091.1:p.Leu37Phe
NM_001127649.2:c.109C>T	NP_001121121.1:p.Leu37Phe
NM_001199319.1:c.109C>T	NP_001186248.1:p.Leu37Phe
NM_017929.5:c.109C>T	NP_060399.1:p.Leu37Phe
NM_001127649.3:c.109C>T MANE Select	NP_001121121.1:p.Leu37Phe
NM_001199319.2:c.109C>T	NP_001186248.1:p.Leu37Phe
NM_017929.6:c.109C>T	NP_060399.1:p.Leu37Phe