Canonical Allele Identifier: CA362452672

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2132436
• ClinVar RCV Id: RCV003036736
• gnomAD v4: 5-179833677-C-A
• MyVariant Identifiers: chr5:g.179260677C>A (hg19) ; chr5:g.179833677C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833677C>A , CM000667.2:g.179833677C>A	GRCh38
NC_000005.9:g.179260677C>A , CM000667.1:g.179260677C>A	GRCh37
NC_000005.8:g.179193283C>A	NCBI36
NG_011342.1:g.32290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1060C>A MANE Select	ENSP00000374455.4:p.Gln354Lys
ENST00000360718.5:c.808C>A	ENSP00000353944.5:p.Gln270Lys
ENST00000389805.8:c.1060C>A	ENSP00000374455.4:p.Gln354Lys
ENST00000510187.5:c.950+450C>A	ENSP00000424477.1:n.950+450C>A
NM_001142298.1:c.808C>A	NP_001135770.1:p.Gln270Lys
NM_001142299.1:c.808C>A	NP_001135771.1:p.Gln270Lys
NM_003900.4:c.1060C>A	NP_003891.1:p.Gln354Lys
XM_017010010.1:c.808C>A	XP_016865499.1:p.Gln270Lys
NM_003900.5:c.1060C>A MANE Select	NP_003891.1:p.Gln354Lys
NM_001142298.2:c.808C>A	NP_001135770.1:p.Gln270Lys
NM_001142299.2:c.808C>A	NP_001135771.1:p.Gln270Lys