Canonical Allele Identifier: CA133109718

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1319146
• ClinVar RCV Id: RCV001868769 ; RCV003238467
• dbSNP Id: rs765610848
• gnomAD v4: 5-179833671-G-T
• MyVariant Identifiers: chr5:g.179260671G>T (hg19) ; chr5:g.179833671G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833671G>T , CM000667.2:g.179833671G>T	GRCh38
NC_000005.9:g.179260671G>T , CM000667.1:g.179260671G>T	GRCh37
NC_000005.8:g.179193277G>T	NCBI36
NG_011342.1:g.32284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1054G>T MANE Select	ENSP00000374455.4:p.Glu352Ter
ENST00000360718.5:c.802G>T	ENSP00000353944.5:p.Glu268Ter
ENST00000389805.8:c.1054G>T	ENSP00000374455.4:p.Glu352Ter
ENST00000510187.5:c.950+444G>T	ENSP00000424477.1:n.950+444G>T
NM_001142298.1:c.802G>T	NP_001135770.1:p.Glu268Ter
NM_001142299.1:c.802G>T	NP_001135771.1:p.Glu268Ter
NM_003900.4:c.1054G>T	NP_003891.1:p.Glu352Ter
XM_017010010.1:c.802G>T	XP_016865499.1:p.Glu268Ter
NM_003900.5:c.1054G>T MANE Select	NP_003891.1:p.Glu352Ter
NM_001142298.2:c.802G>T	NP_001135770.1:p.Glu268Ter
NM_001142299.2:c.802G>T	NP_001135771.1:p.Glu268Ter