Canonical Allele Identifier: CA362452379

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2931971
• ClinVar RCV Id: RCV003792993
• dbSNP Id: rs1758352713
• gnomAD v3: 5-179833605-A-G
• gnomAD v4: 5-179833605-A-G
• MyVariant Identifiers: chr5:g.179260605A>G (hg19) ; chr5:g.179833605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833605A>G , CM000667.2:g.179833605A>G	GRCh38
NC_000005.9:g.179260605A>G , CM000667.1:g.179260605A>G	GRCh37
NC_000005.8:g.179193211A>G	NCBI36
NG_011342.1:g.32218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.988A>G MANE Select	ENSP00000374455.4:p.Asn330Asp
ENST00000360718.5:c.736A>G	ENSP00000353944.5:p.Asn246Asp
ENST00000389805.8:c.988A>G	ENSP00000374455.4:p.Asn330Asp
ENST00000510187.5:c.950+378A>G	ENSP00000424477.1:n.950+378A>G
NM_001142298.1:c.736A>G	NP_001135770.1:p.Asn246Asp
NM_001142299.1:c.736A>G	NP_001135771.1:p.Asn246Asp
NM_003900.4:c.988A>G	NP_003891.1:p.Asn330Asp
XM_017010010.1:c.736A>G	XP_016865499.1:p.Asn246Asp
NM_003900.5:c.988A>G MANE Select	NP_003891.1:p.Asn330Asp
NM_001142298.2:c.736A>G	NP_001135770.1:p.Asn246Asp
NM_001142299.2:c.736A>G	NP_001135771.1:p.Asn246Asp