Canonical Allele Identifier: CA3600800

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 448529
• ClinVar RCV Id: RCV000518391 ; RCV000873769 ; RCV001157196 ; RCV001579517 ; RCV004541623
• dbSNP Id: rs143956614
• ExAC: 5:179260725 T / C
• gnomAD v2: 5-179260725-T-C
• gnomAD v3: 5-179833725-T-C
• gnomAD v4: 5-179833725-T-C
• MyVariant Identifiers: chr5:g.179260725T>C (hg19) ; chr5:g.179833725T>C (hg38)
• PubMed: PMID:22084127 ; PMID:23447461

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833725T>C , CM000667.2:g.179833725T>C	GRCh38
NC_000005.9:g.179260725T>C , CM000667.1:g.179260725T>C	GRCh37
NC_000005.8:g.179193331T>C	NCBI36
NG_011342.1:g.32338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1108T>C MANE Select	ENSP00000374455.4:p.Ser370Pro
ENST00000360718.5:c.856T>C	ENSP00000353944.5:p.Ser286Pro
ENST00000389805.8:c.1108T>C	ENSP00000374455.4:p.Ser370Pro
ENST00000510187.5:c.950+498T>C	ENSP00000424477.1:n.950+498T>C
NM_001142298.1:c.856T>C	NP_001135770.1:p.Ser286Pro
NM_001142299.1:c.856T>C	NP_001135771.1:p.Ser286Pro
NM_003900.4:c.1108T>C	NP_003891.1:p.Ser370Pro
XM_017010010.1:c.856T>C	XP_016865499.1:p.Ser286Pro
NM_003900.5:c.1108T>C MANE Select	NP_003891.1:p.Ser370Pro
NM_001142298.2:c.856T>C	NP_001135770.1:p.Ser286Pro
NM_001142299.2:c.856T>C	NP_001135771.1:p.Ser286Pro