Canonical Allele Identifier: CA3600506

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 907325
• ClinVar RCV Id: RCV001157084 ; RCV001319479
• dbSNP Id: rs374417389
• ExAC: 5:179250985 C / A
• gnomAD v2: 5-179250985-C-A
• gnomAD v3: 5-179823985-C-A
• gnomAD v4: 5-179823985-C-A
• MyVariant Identifiers: chr5:g.179250985C>A (hg19) ; chr5:g.179823985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823985C>A , CM000667.2:g.179823985C>A	GRCh38
NC_000005.9:g.179250985C>A , CM000667.1:g.179250985C>A	GRCh37
NC_000005.8:g.179183591C>A	NCBI36
NG_011342.1:g.22598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.429C>A MANE Select	ENSP00000374455.4:p.Ser143Arg
ENST00000360718.5:c.177C>A	ENSP00000353944.5:p.Ser59Arg
ENST00000389805.8:c.429C>A	ENSP00000374455.4:p.Ser143Arg
ENST00000422245.5:c.177C>A	ENSP00000394534.1:p.Ser59Arg
ENST00000464493.5:n.324C>A
ENST00000466342.1:n.128C>A
ENST00000485412.1:n.421C>A
ENST00000504627.1:c.498C>A	ENSP00000425957.1:p.Ser166Arg
ENST00000508284.5:c.*151C>A	ENSP00000424195.1:n.*151C>A
ENST00000510187.5:c.429C>A	ENSP00000424477.1:p.Ser143Arg
ENST00000514093.5:c.177C>A	ENSP00000427308.1:p.Ser59Arg
NM_001142298.1:c.177C>A	NP_001135770.1:p.Ser59Arg
NM_001142299.1:c.177C>A	NP_001135771.1:p.Ser59Arg
NM_003900.4:c.429C>A	NP_003891.1:p.Ser143Arg
XM_017010010.1:c.177C>A	XP_016865499.1:p.Ser59Arg
NM_003900.5:c.429C>A MANE Select	NP_003891.1:p.Ser143Arg
NM_001142298.2:c.177C>A	NP_001135770.1:p.Ser59Arg
NM_001142299.2:c.177C>A	NP_001135771.1:p.Ser59Arg