Canonical Allele Identifier: CA133098269

Gene: SQSTM1

Linked Data

• dbSNP Id: rs537503261
• gnomAD v2: 5-179250900-A-G
• gnomAD v3: 5-179823900-A-G
• gnomAD v4: 5-179823900-A-G
• MyVariant Identifiers: chr5:g.179250900A>G (hg19) ; chr5:g.179823900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823900A>G , CM000667.2:g.179823900A>G	GRCh38
NC_000005.9:g.179250900A>G , CM000667.1:g.179250900A>G	GRCh37
NC_000005.8:g.179183506A>G	NCBI36
NG_011342.1:g.22513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.344A>G MANE Select	ENSP00000374455.4:p.Gln115Arg
ENST00000360718.5:c.92A>G	ENSP00000353944.5:p.Gln31Arg
ENST00000389805.8:c.344A>G	ENSP00000374455.4:p.Gln115Arg
ENST00000422245.5:c.92A>G	ENSP00000394534.1:p.Gln31Arg
ENST00000453046.5:c.*279A>G	ENSP00000405061.1:n.*279A>G
ENST00000464493.5:n.239A>G
ENST00000466342.1:n.43A>G
ENST00000481335.5:n.494A>G
ENST00000485412.1:n.336A>G
ENST00000504627.1:c.413A>G	ENSP00000425957.1:p.Gln138Arg
ENST00000508284.5:c.*66A>G	ENSP00000424195.1:n.*66A>G
ENST00000510187.5:c.344A>G	ENSP00000424477.1:p.Gln115Arg
ENST00000514093.5:c.92A>G	ENSP00000427308.1:p.Gln31Arg
NM_001142298.1:c.92A>G	NP_001135770.1:p.Gln31Arg
NM_001142299.1:c.92A>G	NP_001135771.1:p.Gln31Arg
NM_003900.4:c.344A>G	NP_003891.1:p.Gln115Arg
XM_017010010.1:c.92A>G	XP_016865499.1:p.Gln31Arg
NM_003900.5:c.344A>G MANE Select	NP_003891.1:p.Gln115Arg
NM_001142298.2:c.92A>G	NP_001135770.1:p.Gln31Arg
NM_001142299.2:c.92A>G	NP_001135771.1:p.Gln31Arg