Canonical Allele Identifier: CA362452695

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2923831
• ClinVar RCV Id: RCV003783389
• dbSNP Id: rs976860428
• gnomAD v2: 5-179260679-G-T
• gnomAD v3: 5-179833679-G-T
• gnomAD v4: 5-179833679-G-T
• MyVariant Identifiers: chr5:g.179260679G>T (hg19) ; chr5:g.179833679G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833679G>T , CM000667.2:g.179833679G>T	GRCh38
NC_000005.9:g.179260679G>T , CM000667.1:g.179260679G>T	GRCh37
NC_000005.8:g.179193285G>T	NCBI36
NG_011342.1:g.32292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1062G>T MANE Select	ENSP00000374455.4:p.Gln354His
ENST00000360718.5:c.810G>T	ENSP00000353944.5:p.Gln270His
ENST00000389805.8:c.1062G>T	ENSP00000374455.4:p.Gln354His
ENST00000510187.5:c.950+452G>T	ENSP00000424477.1:n.950+452G>T
NM_001142298.1:c.810G>T	NP_001135770.1:p.Gln270His
NM_001142299.1:c.810G>T	NP_001135771.1:p.Gln270His
NM_003900.4:c.1062G>T	NP_003891.1:p.Gln354His
XM_017010010.1:c.810G>T	XP_016865499.1:p.Gln270His
NM_003900.5:c.1062G>T MANE Select	NP_003891.1:p.Gln354His
NM_001142298.2:c.810G>T	NP_001135770.1:p.Gln270His
NM_001142299.2:c.810G>T	NP_001135771.1:p.Gln270His