Canonical Allele Identifier: CA362452407

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 647353
• ClinVar RCV Id: RCV000801848
• dbSNP Id: rs1185406298
• gnomAD v4: 5-179833612-C-T
• MyVariant Identifiers: chr5:g.179260612C>T (hg19) ; chr5:g.179833612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833612C>T , CM000667.2:g.179833612C>T	GRCh38
NC_000005.9:g.179260612C>T , CM000667.1:g.179260612C>T	GRCh37
NC_000005.8:g.179193218C>T	NCBI36
NG_011342.1:g.32225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.995C>T MANE Select	ENSP00000374455.4:p.Ser332Leu
ENST00000360718.5:c.743C>T	ENSP00000353944.5:p.Ser248Leu
ENST00000389805.8:c.995C>T	ENSP00000374455.4:p.Ser332Leu
ENST00000510187.5:c.950+385C>T	ENSP00000424477.1:n.950+385C>T
NM_001142298.1:c.743C>T	NP_001135770.1:p.Ser248Leu
NM_001142299.1:c.743C>T	NP_001135771.1:p.Ser248Leu
NM_003900.4:c.995C>T	NP_003891.1:p.Ser332Leu
XM_017010010.1:c.743C>T	XP_016865499.1:p.Ser248Leu
NM_003900.5:c.995C>T MANE Select	NP_003891.1:p.Ser332Leu
NM_001142298.2:c.743C>T	NP_001135770.1:p.Ser248Leu
NM_001142299.2:c.743C>T	NP_001135771.1:p.Ser248Leu