Canonical Allele Identifier: CA124296

Gene: SOD1

Linked Data

• ClinVar Variation Id: 14766
• ClinVar RCV Id: RCV000015888 ; RCV000015889 ; RCV000713399 ; RCV001843455 ; RCV003415711
• dbSNP Id: rs80265967
• ExAC: 21:33039603 A / C
• gnomAD v2: 21-33039603-A-C
• gnomAD v3: 21-31667290-A-C
• gnomAD v4: 21-31667290-A-C
• MyVariant Identifiers: chr21:g.33039603A>C (hg19) ; chr21:g.31667290A>C (hg38)
• PubMed: PMID:7647793 ; PMID:7655469 ; PMID:8909456 ; PMID:9817920 ; PMID:10439968 ; PMID:10809943 ; PMID:11220750 ; PMID:11284995 ; PMID:11369193 ; PMID:14506936 ; PMID:17420412 ; PMID:19965850 ; PMID:22292843 ; PMID:23100398 ; PMID:23962495

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667290A>C , CM000683.2:g.31667290A>C	GRCh38
NC_000021.8:g.33039603A>C , CM000683.1:g.33039603A>C	GRCh37
NC_000021.7:g.31961474A>C	NCBI36
NG_008689.1:g.12669A>C , LRG_652:g.12669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.272A>C MANE Select	ENSP00000270142.7:p.Asp91Ala
ENST00000270142.10:c.272A>C	ENSP00000270142.6:p.Asp91Ala
ENST00000389995.4:c.215A>C	ENSP00000374645.4:p.Asp72Ala
ENST00000470944.1:n.1200A>C
ENST00000476106.5:n.535A>C
NM_000454.4:c.272A>C , LRG_652t1:c.272A>C	NP_000445.1:p.Asp91Ala
NM_000454.5:c.272A>C MANE Select	NP_000445.1:p.Asp91Ala