Canonical Allele Identifier: CA346902

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 202210
• ClinVar RCV Id: RCV000184064
• dbSNP Id: rs796052213
• gnomAD v4: 5-179833749-A-T
• MyVariant Identifiers: chr5:g.179260749A>T (hg19) ; chr5:g.179833749A>T (hg38)
• PubMed: PMID:16813535

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833749A>T , CM000667.2:g.179833749A>T	GRCh38
NC_000005.9:g.179260749A>T , CM000667.1:g.179260749A>T	GRCh37
NC_000005.8:g.179193355A>T	NCBI36
NG_011342.1:g.32362A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1132A>T MANE Select	ENSP00000374455.4:p.Lys378Ter
ENST00000360718.5:c.880A>T	ENSP00000353944.5:p.Lys294Ter
ENST00000389805.8:c.1132A>T	ENSP00000374455.4:p.Lys378Ter
ENST00000510187.5:c.950+522A>T	ENSP00000424477.1:n.950+522A>T
NM_001142298.1:c.880A>T	NP_001135770.1:p.Lys294Ter
NM_001142299.1:c.880A>T	NP_001135771.1:p.Lys294Ter
NM_003900.4:c.1132A>T	NP_003891.1:p.Lys378Ter
XM_017010010.1:c.880A>T	XP_016865499.1:p.Lys294Ter
NM_003900.5:c.1132A>T MANE Select	NP_003891.1:p.Lys378Ter
NM_001142298.2:c.880A>T	NP_001135770.1:p.Lys294Ter
NM_001142299.2:c.880A>T	NP_001135771.1:p.Lys294Ter