Canonical Allele Identifier: CA362452396

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1758352876
• gnomAD v3: 5-179833609-G-C
• gnomAD v4: 5-179833609-G-C
• MyVariant Identifiers: chr5:g.179260609G>C (hg19) ; chr5:g.179833609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833609G>C , CM000667.2:g.179833609G>C	GRCh38
NC_000005.9:g.179260609G>C , CM000667.1:g.179260609G>C	GRCh37
NC_000005.8:g.179193215G>C	NCBI36
NG_011342.1:g.32222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.992G>C MANE Select	ENSP00000374455.4:p.Cys331Ser
ENST00000360718.5:c.740G>C	ENSP00000353944.5:p.Cys247Ser
ENST00000389805.8:c.992G>C	ENSP00000374455.4:p.Cys331Ser
ENST00000510187.5:c.950+382G>C	ENSP00000424477.1:n.950+382G>C
NM_001142298.1:c.740G>C	NP_001135770.1:p.Cys247Ser
NM_001142299.1:c.740G>C	NP_001135771.1:p.Cys247Ser
NM_003900.4:c.992G>C	NP_003891.1:p.Cys331Ser
XM_017010010.1:c.740G>C	XP_016865499.1:p.Cys247Ser
NM_003900.5:c.992G>C MANE Select	NP_003891.1:p.Cys331Ser
NM_001142298.2:c.740G>C	NP_001135770.1:p.Cys247Ser
NM_001142299.2:c.740G>C	NP_001135771.1:p.Cys247Ser