Canonical Allele Identifier: CA257339

Gene: SOD1

Linked Data

• ClinVar Variation Id: 14768
• ClinVar RCV Id: RCV000516860 ; RCV001813992 ; RCV000015891
• dbSNP Id: rs121912446
• MyVariant Identifiers: chr21:g.33040860T>C (hg19) ; chr21:g.31668547T>C (hg38)
• PubMed: PMID:7496169 ; PMID:9029070 ; PMID:13129804 ; PMID:14506936 ; PMID:16020530 ; PMID:19483195 ; PMID:23062701

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31668547T>C , CM000683.2:g.31668547T>C	GRCh38
NC_000021.8:g.33040860T>C , CM000683.1:g.33040860T>C	GRCh37
NC_000021.7:g.31962731T>C	NCBI36
NG_008689.1:g.13926T>C , LRG_652:g.13926T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.434T>C MANE Select	ENSP00000270142.7:p.Leu145Ser
ENST00000270142.10:c.434T>C	ENSP00000270142.6:p.Leu145Ser
ENST00000389995.4:c.377T>C	ENSP00000374645.4:p.Leu126Ser
ENST00000470944.1:n.1362T>C
NM_000454.4:c.434T>C , LRG_652t1:c.434T>C	NP_000445.1:p.Leu145Ser
NM_000454.5:c.434T>C MANE Select	NP_000445.1:p.Leu145Ser