Canonical Allele Identifier: CA3600337

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 353152
• ClinVar RCV Id: RCV000265717
• dbSNP Id: rs74523483
• ExAC: 5:179247912 G / A
• gnomAD v2: 5-179247912-G-A
• gnomAD v3: 5-179820912-G-A
• gnomAD v4: 5-179820912-G-A
• MyVariant Identifiers: chr5:g.179247912G>A (hg19) ; chr5:g.179820912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179820912G>A , CM000667.2:g.179820912G>A	GRCh38
NC_000005.9:g.179247912G>A , CM000667.1:g.179247912G>A	GRCh37
NC_000005.8:g.179180518G>A	NCBI36
NG_011342.1:g.19525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.-25G>A MANE Select	ENSP00000374455.4:n.-25G>A
ENST00000389805.8:c.-25G>A	ENSP00000374455.4:n.-25G>A
ENST00000422245.5:c.-48+1875G>A	ENSP00000394534.1:n.-48+1875G>A
ENST00000453046.5:c.-25G>A	ENSP00000405061.1:n.-25G>A
ENST00000464493.5:n.100+206G>A
ENST00000481335.5:n.355+525G>A
ENST00000504627.1:c.-25G>A	ENSP00000425957.1:n.-25G>A
ENST00000508284.5:c.-25G>A	ENSP00000424195.1:n.-25G>A
ENST00000514093.5:c.-47-2046G>A	ENSP00000427308.1:n.-47-2046G>A
ENST00000626660.1:c.-25G>A	ENSP00000487071.1:n.-25G>A
NM_001142298.1:c.-47-2046G>A	NP_001135770.1:n.-47-2046G>A
NM_001142299.1:c.-47-2046G>A	NP_001135771.1:n.-47-2046G>A
NM_003900.4:c.-25G>A	NP_003891.1:n.-25G>A
NM_003900.5:c.-25G>A MANE Select	NP_003891.1:n.-25G>A
NM_001142298.2:c.-47-2046G>A	NP_001135770.1:n.-47-2046G>A
NM_001142299.2:c.-47-2046G>A	NP_001135771.1:n.-47-2046G>A