Canonical Allele Identifier: CA10093320

Gene: PEX26

Linked Data

• ClinVar Variation Id: 287366
• ClinVar RCV Id: RCV000296353 ; RCV000883540 ; RCV001140189 ; RCV001731563 ; RCV003920124
• dbSNP Id: rs142648687
• ExAC: 22:18566240 G / C
• gnomAD v2: 22-18566240-G-C
• gnomAD v3: 22-18083474-G-C
• gnomAD v4: 22-18083474-G-C
• MyVariant Identifiers: chr22:g.18566240G>C (hg19) ; chr22:g.18083474G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18083474G>C , CM000684.2:g.18083474G>C	GRCh38
NC_000022.10:g.18566240G>C , CM000684.1:g.18566240G>C	GRCh37
NC_000022.9:g.16946240G>C	NCBI36
NG_008339.1:g.10555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.409G>C MANE Select	ENSP00000382648.4:p.Val137Leu
ENST00000474897.6:c.409G>C	ENSP00000434235.2:p.Val137Leu
ENST00000329627.11:c.409G>C	ENSP00000331106.5:p.Val137Leu
ENST00000399744.7:c.409G>C	ENSP00000382648.3:p.Val137Leu
ENST00000428061.2:c.409G>C	ENSP00000412441.2:p.Val137Leu
ENST00000474897.5:c.371+3460G>C	ENSP00000434235.1:n.371+3460G>C
ENST00000610387.4:c.409G>C	ENSP00000482091.1:p.Val137Leu
NM_001127649.2:c.409G>C	NP_001121121.1:p.Val137Leu
NM_001199319.1:c.409G>C	NP_001186248.1:p.Val137Leu
NM_017929.5:c.409G>C	NP_060399.1:p.Val137Leu
NM_001127649.3:c.409G>C MANE Select	NP_001121121.1:p.Val137Leu
NM_001199319.2:c.409G>C	NP_001186248.1:p.Val137Leu
NM_017929.6:c.409G>C	NP_060399.1:p.Val137Leu