Canonical Allele Identifier: CA808343991

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1399489583
• gnomAD v3: 5-179833854-A-C
• gnomAD v4: 5-179833854-A-C
• MyVariant Identifiers: chr5:g.179260854A>C (hg19) ; chr5:g.179833854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833854A>C , CM000667.2:g.179833854A>C	GRCh38
NC_000005.9:g.179260854A>C , CM000667.1:g.179260854A>C	GRCh37
NC_000005.8:g.179193460A>C	NCBI36
NG_011342.1:g.32467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+72A>C MANE Select	ENSP00000374455.4:n.1165+72A>C
ENST00000360718.5:c.913+72A>C	ENSP00000353944.5:n.913+72A>C
ENST00000389805.8:c.1165+72A>C	ENSP00000374455.4:n.1165+72A>C
ENST00000510187.5:c.950+627A>C	ENSP00000424477.1:n.950+627A>C
NM_001142298.1:c.913+72A>C	NP_001135770.1:n.913+72A>C
NM_001142299.1:c.913+72A>C	NP_001135771.1:n.913+72A>C
NM_003900.4:c.1165+72A>C	NP_003891.1:n.1165+72A>C
XM_017010010.1:c.913+72A>C	XP_016865499.1:n.913+72A>C
NM_003900.5:c.1165+72A>C MANE Select	NP_003891.1:n.1165+72A>C
NM_001142298.2:c.913+72A>C	NP_001135770.1:n.913+72A>C
NM_001142299.2:c.913+72A>C	NP_001135771.1:n.913+72A>C