Canonical Allele Identifier: CA3600806

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2634070
• ClinVar RCV Id: RCV003778277 ; RCV004531664
• dbSNP Id: rs147305175
• ExAC: 5:179260746 C / G
• gnomAD v2: 5-179260746-C-G
• gnomAD v3: 5-179833746-C-G
• gnomAD v4: 5-179833746-C-G
• MyVariant Identifiers: chr5:g.179260746C>G (hg19) ; chr5:g.179833746C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833746C>G , CM000667.2:g.179833746C>G	GRCh38
NC_000005.9:g.179260746C>G , CM000667.1:g.179260746C>G	GRCh37
NC_000005.8:g.179193352C>G	NCBI36
NG_011342.1:g.32359C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1129C>G MANE Select	ENSP00000374455.4:p.Leu377Val
ENST00000360718.5:c.877C>G	ENSP00000353944.5:p.Leu293Val
ENST00000389805.8:c.1129C>G	ENSP00000374455.4:p.Leu377Val
ENST00000510187.5:c.950+519C>G	ENSP00000424477.1:n.950+519C>G
NM_001142298.1:c.877C>G	NP_001135770.1:p.Leu293Val
NM_001142299.1:c.877C>G	NP_001135771.1:p.Leu293Val
NM_003900.4:c.1129C>G	NP_003891.1:p.Leu377Val
XM_017010010.1:c.877C>G	XP_016865499.1:p.Leu293Val
NM_003900.5:c.1129C>G MANE Select	NP_003891.1:p.Leu377Val
NM_001142298.2:c.877C>G	NP_001135770.1:p.Leu293Val
NM_001142299.2:c.877C>G	NP_001135771.1:p.Leu293Val