Canonical Allele Identifier: CA257321
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14757
ClinVar RCV Id: RCV000015879 RCV003390685
dbSNP Id: rs121912440
MyVariant Identifiers: chr21:g.33039650C>G (hg19) chr21:g.31667337C>G (hg38)
PubMed: PMID:7911198 PMID:8446170
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667337C>G , CM000683.2:g.31667337C>G GRCh38
NC_000021.8:g.33039650C>G , CM000683.1:g.33039650C>G GRCh37
NC_000021.7:g.31961521C>G NCBI36
NG_008689.1:g.12716C>G , LRG_652:g.12716C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.319C>G MANE Select ENSP00000270142.7:p.Leu107Val
ENST00000270142.10:c.319C>G ENSP00000270142.6:p.Leu107Val
ENST00000389995.4:c.262C>G ENSP00000374645.4:p.Leu88Val
ENST00000470944.1:n.1247C>G
ENST00000476106.5:n.582C>G
NM_000454.4:c.319C>G , LRG_652t1:c.319C>G NP_000445.1:p.Leu107Val
NM_000454.5:c.319C>G MANE Select NP_000445.1:p.Leu107Val
Search 100 bp 5'
Search 100 bp 3'