Canonical Allele Identifier: CA362443434

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2634117
• ClinVar RCV Id: RCV003778279 ; RCV004531669
• dbSNP Id: rs1267306593
• gnomAD v2: 5-179250885-G-A
• gnomAD v3: 5-179823885-G-A
• gnomAD v4: 5-179823885-G-A
• MyVariant Identifiers: chr5:g.179250885G>A (hg19) ; chr5:g.179823885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823885G>A , CM000667.2:g.179823885G>A	GRCh38
NC_000005.9:g.179250885G>A , CM000667.1:g.179250885G>A	GRCh37
NC_000005.8:g.179183491G>A	NCBI36
NG_011342.1:g.22498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.329G>A MANE Select	ENSP00000374455.4:p.Arg110His
ENST00000360718.5:c.77G>A	ENSP00000353944.5:p.Arg26His
ENST00000389805.8:c.329G>A	ENSP00000374455.4:p.Arg110His
ENST00000422245.5:c.77G>A	ENSP00000394534.1:p.Arg26His
ENST00000453046.5:c.*264G>A	ENSP00000405061.1:n.*264G>A
ENST00000464493.5:n.224G>A
ENST00000466342.1:n.28G>A
ENST00000481335.5:n.479G>A
ENST00000485412.1:n.321G>A
ENST00000504627.1:c.398G>A	ENSP00000425957.1:p.Arg133His
ENST00000508284.5:c.*51G>A	ENSP00000424195.1:n.*51G>A
ENST00000510187.5:c.329G>A	ENSP00000424477.1:p.Arg110His
ENST00000514093.5:c.77G>A	ENSP00000427308.1:p.Arg26His
NM_001142298.1:c.77G>A	NP_001135770.1:p.Arg26His
NM_001142299.1:c.77G>A	NP_001135771.1:p.Arg26His
NM_003900.4:c.329G>A	NP_003891.1:p.Arg110His
XM_017010010.1:c.77G>A	XP_016865499.1:p.Arg26His
NM_003900.5:c.329G>A MANE Select	NP_003891.1:p.Arg110His
NM_001142298.2:c.77G>A	NP_001135770.1:p.Arg26His
NM_001142299.2:c.77G>A	NP_001135771.1:p.Arg26His