Canonical Allele Identifier: CA3600818

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2077412
• ClinVar RCV Id: RCV002976480
• dbSNP Id: rs201108620
• ExAC: 5:179260792 C / T
• gnomAD v2: 5-179260792-C-T
• gnomAD v3: 5-179833792-C-T
• gnomAD v4: 5-179833792-C-T
• MyVariant Identifiers: chr5:g.179260792C>T (hg19) ; chr5:g.179833792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833792C>T , CM000667.2:g.179833792C>T	GRCh38
NC_000005.9:g.179260792C>T , CM000667.1:g.179260792C>T	GRCh37
NC_000005.8:g.179193398C>T	NCBI36
NG_011342.1:g.32405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+10C>T MANE Select	ENSP00000374455.4:n.1165+10C>T
ENST00000360718.5:c.913+10C>T	ENSP00000353944.5:n.913+10C>T
ENST00000389805.8:c.1165+10C>T	ENSP00000374455.4:n.1165+10C>T
ENST00000510187.5:c.950+565C>T	ENSP00000424477.1:n.950+565C>T
NM_001142298.1:c.913+10C>T	NP_001135770.1:n.913+10C>T
NM_001142299.1:c.913+10C>T	NP_001135771.1:n.913+10C>T
NM_003900.4:c.1165+10C>T	NP_003891.1:n.1165+10C>T
XM_017010010.1:c.913+10C>T	XP_016865499.1:n.913+10C>T
NM_003900.5:c.1165+10C>T MANE Select	NP_003891.1:n.1165+10C>T
NM_001142298.2:c.913+10C>T	NP_001135770.1:n.913+10C>T
NM_001142299.2:c.913+10C>T	NP_001135771.1:n.913+10C>T