Canonical Allele Identifier: CA3600763

Gene: SQSTM1

Linked Data

• dbSNP Id: rs370868602
• ExAC: 5:179260563 T / C
• gnomAD v2: 5-179260563-T-C
• gnomAD v3: 5-179833563-T-C
• gnomAD v4: 5-179833563-T-C
• MyVariant Identifiers: chr5:g.179260563T>C (hg19) ; chr5:g.179833563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833563T>C , CM000667.2:g.179833563T>C	GRCh38
NC_000005.9:g.179260563T>C , CM000667.1:g.179260563T>C	GRCh37
NC_000005.8:g.179193169T>C	NCBI36
NG_011342.1:g.32176T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.970-24T>C MANE Select	ENSP00000374455.4:n.970-24T>C
ENST00000360718.5:c.718-24T>C	ENSP00000353944.5:n.718-24T>C
ENST00000389805.8:c.970-24T>C	ENSP00000374455.4:n.970-24T>C
ENST00000510187.5:c.950+336T>C	ENSP00000424477.1:n.950+336T>C
NM_001142298.1:c.718-24T>C	NP_001135770.1:n.718-24T>C
NM_001142299.1:c.718-24T>C	NP_001135771.1:n.718-24T>C
NM_003900.4:c.970-24T>C	NP_003891.1:n.970-24T>C
XM_017010010.1:c.718-24T>C	XP_016865499.1:n.718-24T>C
NM_003900.5:c.970-24T>C MANE Select	NP_003891.1:n.970-24T>C
NM_001142298.2:c.718-24T>C	NP_001135770.1:n.718-24T>C
NM_001142299.2:c.718-24T>C	NP_001135771.1:n.718-24T>C