Canonical Allele Identifier: CA410037432

Gene: SOD1

Linked Data

• ClinVar Variation Id: 1191297
• ClinVar RCV Id: RCV001552307 ; RCV002568339
• dbSNP Id: rs1280042397
• gnomAD v2: 21-33039600-C-T
• gnomAD v3: 21-31667287-C-T
• gnomAD v4: 21-31667287-C-T
• MyVariant Identifiers: chr21:g.33039600C>T (hg19) ; chr21:g.31667287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667287C>T , CM000683.2:g.31667287C>T	GRCh38
NC_000021.8:g.33039600C>T , CM000683.1:g.33039600C>T	GRCh37
NC_000021.7:g.31961471C>T	NCBI36
NG_008689.1:g.12666C>T , LRG_652:g.12666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.269C>T MANE Select	ENSP00000270142.7:p.Ala90Val
ENST00000270142.10:c.269C>T	ENSP00000270142.6:p.Ala90Val
ENST00000389995.4:c.212C>T	ENSP00000374645.4:p.Ala71Val
ENST00000470944.1:n.1197C>T
ENST00000476106.5:n.532C>T
NM_000454.4:c.269C>T , LRG_652t1:c.269C>T	NP_000445.1:p.Ala90Val
NM_000454.5:c.269C>T MANE Select	NP_000445.1:p.Ala90Val