Canonical Allele Identifier: CA275244

Gene: SOD1

Linked Data

• ClinVar Variation Id: 197145
• ClinVar RCV Id: RCV000178103 ; RCV000255754 ; RCV000492500 ; RCV003398894
• dbSNP Id: rs121912441
• gnomAD v2: 21-33039672-T-C
• gnomAD v3: 21-31667359-T-C
• gnomAD v4: 21-31667359-T-C
• MyVariant Identifiers: chr21:g.33039672T>C (hg19) ; chr21:g.31667359T>C (hg38)
• PubMed: PMID:7673954 ; PMID:7997024 ; PMID:8069312 ; PMID:8446170 ; PMID:8528216 ; PMID:8572658 ; PMID:10400992 ; PMID:10732812 ; PMID:12165567 ; PMID:12358759 ; PMID:15056757 ; PMID:16510725 ; PMID:17092942 ; PMID:17394531 ; PMID:18301754 ; PMID:19259395 ; PMID:19483195 ; PMID:23773010 ; PMID:23891399 ; PMID:28089114

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667359T>C , CM000683.2:g.31667359T>C	GRCh38
NC_000021.8:g.33039672T>C , CM000683.1:g.33039672T>C	GRCh37
NC_000021.7:g.31961543T>C	NCBI36
NG_008689.1:g.12738T>C , LRG_652:g.12738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.341T>C MANE Select	ENSP00000270142.7:p.Ile114Thr
ENST00000270142.10:c.341T>C	ENSP00000270142.6:p.Ile114Thr
ENST00000389995.4:c.284T>C	ENSP00000374645.4:p.Ile95Thr
ENST00000470944.1:n.1269T>C
NM_000454.4:c.341T>C , LRG_652t1:c.341T>C	NP_000445.1:p.Ile114Thr
NM_000454.5:c.341T>C MANE Select	NP_000445.1:p.Ile114Thr