Canonical Allele Identifier: CA257351
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14775
ClinVar RCV Id: RCV000015898
dbSNP Id: rs121912452

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667271T>G , CM000683.2:g.31667271T>G GRCh38
NC_000021.8:g.33039584T>G , CM000683.1:g.33039584T>G GRCh37
NC_000021.7:g.31961455T>G NCBI36
NG_008689.1:g.12650T>G , LRG_652:g.12650T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.253T>G MANE Select ENSP00000270142.7:p.Leu85Val
ENST00000270142.10:c.253T>G ENSP00000270142.6:p.Leu85Val
ENST00000389995.4:c.196T>G ENSP00000374645.4:p.Leu66Val
ENST00000470944.1:n.1181T>G
ENST00000476106.5:n.516T>G
NM_000454.4:c.253T>G , LRG_652t1:c.253T>G NP_000445.1:p.Leu85Val
NM_000454.5:c.253T>G MANE Select NP_000445.1:p.Leu85Val