Canonical Allele Identifier: CA3600374

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 253029
• ClinVar RCV Id: RCV000184066 ; RCV000652548 ; RCV001636735 ; RCV001155398 ; RCV002518539 ; RCV003387820
• dbSNP Id: rs200396166
• ExAC: 5:179248034 C / T
• gnomAD v2: 5-179248034-C-T
• gnomAD v3: 5-179821034-C-T
• gnomAD v4: 5-179821034-C-T
• MyVariant Identifiers: chr5:g.179248034C>T (hg19) ; chr5:g.179821034C>T (hg38)
• PubMed: PMID:22084127 ; PMID:24042580

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179821034C>T , CM000667.2:g.179821034C>T	GRCh38
NC_000005.9:g.179248034C>T , CM000667.1:g.179248034C>T	GRCh37
NC_000005.8:g.179180640C>T	NCBI36
NG_011342.1:g.19647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.98C>T MANE Select	ENSP00000374455.4:p.Ala33Val
ENST00000389805.8:c.98C>T	ENSP00000374455.4:p.Ala33Val
ENST00000422245.5:c.-47-1924C>T	ENSP00000394534.1:n.-47-1924C>T
ENST00000453046.5:c.98C>T	ENSP00000405061.1:p.Ala33Val
ENST00000464493.5:n.100+328C>T
ENST00000481335.5:n.355+647C>T
ENST00000504627.1:c.98C>T	ENSP00000425957.1:p.Ala33Val
ENST00000508284.5:c.98C>T	ENSP00000424195.1:p.Ala33Val
ENST00000510187.5:c.98C>T	ENSP00000424477.1:p.Ala33Val
ENST00000514093.5:c.-47-1924C>T	ENSP00000427308.1:n.-47-1924C>T
ENST00000626660.1:c.98C>T	ENSP00000487071.1:p.Ala33Val
NM_001142298.1:c.-47-1924C>T	NP_001135770.1:n.-47-1924C>T
NM_001142299.1:c.-47-1924C>T	NP_001135771.1:n.-47-1924C>T
NM_003900.4:c.98C>T	NP_003891.1:p.Ala33Val
NM_003900.5:c.98C>T MANE Select	NP_003891.1:p.Ala33Val
NM_001142298.2:c.-47-1924C>T	NP_001135770.1:n.-47-1924C>T
NM_001142299.2:c.-47-1924C>T	NP_001135771.1:n.-47-1924C>T