Canonical Allele Identifier: CA3600462

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1057481
• ClinVar RCV Id: RCV001366472 ; RCV002290695
• dbSNP Id: rs748170760
• ExAC: 5:179250864 A / G
• gnomAD v2: 5-179250864-A-G
• gnomAD v3: 5-179823864-A-G
• gnomAD v4: 5-179823864-A-G
• MyVariant Identifiers: chr5:g.179250864A>G (hg19) ; chr5:g.179823864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823864A>G , CM000667.2:g.179823864A>G	GRCh38
NC_000005.9:g.179250864A>G , CM000667.1:g.179250864A>G	GRCh37
NC_000005.8:g.179183470A>G	NCBI36
NG_011342.1:g.22477A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.308A>G MANE Select	ENSP00000374455.4:p.Lys103Arg
ENST00000360718.5:c.56A>G	ENSP00000353944.5:p.Lys19Arg
ENST00000389805.8:c.308A>G	ENSP00000374455.4:p.Lys103Arg
ENST00000422245.5:c.56A>G	ENSP00000394534.1:p.Lys19Arg
ENST00000453046.5:c.*243A>G	ENSP00000405061.1:n.*243A>G
ENST00000464493.5:n.203A>G
ENST00000466342.1:n.7A>G
ENST00000481335.5:n.458A>G
ENST00000485412.1:n.300A>G
ENST00000504627.1:c.377A>G	ENSP00000425957.1:p.Lys126Arg
ENST00000508284.5:c.*30A>G	ENSP00000424195.1:n.*30A>G
ENST00000510187.5:c.308A>G	ENSP00000424477.1:p.Lys103Arg
ENST00000514093.5:c.56A>G	ENSP00000427308.1:p.Lys19Arg
NM_001142298.1:c.56A>G	NP_001135770.1:p.Lys19Arg
NM_001142299.1:c.56A>G	NP_001135771.1:p.Lys19Arg
NM_003900.4:c.308A>G	NP_003891.1:p.Lys103Arg
XM_017010010.1:c.56A>G	XP_016865499.1:p.Lys19Arg
NM_003900.5:c.308A>G MANE Select	NP_003891.1:p.Lys103Arg
NM_001142298.2:c.56A>G	NP_001135770.1:p.Lys19Arg
NM_001142299.2:c.56A>G	NP_001135771.1:p.Lys19Arg