Canonical Allele Identifier: CA133109721

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2095052
• ClinVar RCV Id: RCV003025636
• dbSNP Id: rs541743205
• gnomAD v3: 5-179833691-G-A
• gnomAD v4: 5-179833691-G-A
• MyVariant Identifiers: chr5:g.179260691G>A (hg19) ; chr5:g.179833691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833691G>A , CM000667.2:g.179833691G>A	GRCh38
NC_000005.9:g.179260691G>A , CM000667.1:g.179260691G>A	GRCh37
NC_000005.8:g.179193297G>A	NCBI36
NG_011342.1:g.32304G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1074G>A MANE Select	ENSP00000374455.4:p.Met358Ile
ENST00000360718.5:c.822G>A	ENSP00000353944.5:p.Met274Ile
ENST00000389805.8:c.1074G>A	ENSP00000374455.4:p.Met358Ile
ENST00000510187.5:c.950+464G>A	ENSP00000424477.1:n.950+464G>A
NM_001142298.1:c.822G>A	NP_001135770.1:p.Met274Ile
NM_001142299.1:c.822G>A	NP_001135771.1:p.Met274Ile
NM_003900.4:c.1074G>A	NP_003891.1:p.Met358Ile
XM_017010010.1:c.822G>A	XP_016865499.1:p.Met274Ile
NM_003900.5:c.1074G>A MANE Select	NP_003891.1:p.Met358Ile
NM_001142298.2:c.822G>A	NP_001135770.1:p.Met274Ile
NM_001142299.2:c.822G>A	NP_001135771.1:p.Met274Ile