Canonical Allele Identifier: CA3600383

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 353157
• ClinVar RCV Id: RCV000372389 ; RCV000552844 ; RCV001530992
• dbSNP Id: rs767340839
• ExAC: 5:179248119 C / T
• gnomAD v2: 5-179248119-C-T
• gnomAD v3: 5-179821119-C-T
• gnomAD v4: 5-179821119-C-T
• MyVariant Identifiers: chr5:g.179248119C>T (hg19) ; chr5:g.179821119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179821119C>T , CM000667.2:g.179821119C>T	GRCh38
NC_000005.9:g.179248119C>T , CM000667.1:g.179248119C>T	GRCh37
NC_000005.8:g.179180725C>T	NCBI36
NG_011342.1:g.19732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.183C>T MANE Select	ENSP00000374455.4:p.Gly61=
ENST00000389805.8:c.183C>T	ENSP00000374455.4:p.Gly61=
ENST00000422245.5:c.-47-1839C>T	ENSP00000394534.1:n.-47-1839C>T
ENST00000453046.5:c.183C>T	ENSP00000405061.1:p.Gly61=
ENST00000464493.5:n.100+413C>T
ENST00000481335.5:n.355+732C>T
ENST00000504627.1:c.183C>T	ENSP00000425957.1:p.Gly61=
ENST00000508284.5:c.183C>T	ENSP00000424195.1:p.Gly61=
ENST00000510187.5:c.183C>T	ENSP00000424477.1:p.Gly61=
ENST00000514093.5:c.-47-1839C>T	ENSP00000427308.1:n.-47-1839C>T
ENST00000626660.1:c.183C>T	ENSP00000487071.1:p.Gly61=
NM_001142298.1:c.-47-1839C>T	NP_001135770.1:n.-47-1839C>T
NM_001142299.1:c.-47-1839C>T	NP_001135771.1:n.-47-1839C>T
NM_003900.4:c.183C>T	NP_003891.1:p.Gly61=
NM_003900.5:c.183C>T MANE Select	NP_003891.1:p.Gly61=
NM_001142298.2:c.-47-1839C>T	NP_001135770.1:n.-47-1839C>T
NM_001142299.2:c.-47-1839C>T	NP_001135771.1:n.-47-1839C>T