Canonical Allele Identifier: CA3600785

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1941905
• ClinVar RCV Id: RCV002675753
• dbSNP Id: rs749308026
• ExAC: 5:179260656 G / A
• gnomAD v2: 5-179260656-G-A
• gnomAD v4: 5-179833656-G-A
• MyVariant Identifiers: chr5:g.179260656G>A (hg19) ; chr5:g.179833656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833656G>A , CM000667.2:g.179833656G>A	GRCh38
NC_000005.9:g.179260656G>A , CM000667.1:g.179260656G>A	GRCh37
NC_000005.8:g.179193262G>A	NCBI36
NG_011342.1:g.32269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1039G>A MANE Select	ENSP00000374455.4:p.Asp347Asn
ENST00000360718.5:c.787G>A	ENSP00000353944.5:p.Asp263Asn
ENST00000389805.8:c.1039G>A	ENSP00000374455.4:p.Asp347Asn
ENST00000510187.5:c.950+429G>A	ENSP00000424477.1:n.950+429G>A
NM_001142298.1:c.787G>A	NP_001135770.1:p.Asp263Asn
NM_001142299.1:c.787G>A	NP_001135771.1:p.Asp263Asn
NM_003900.4:c.1039G>A	NP_003891.1:p.Asp347Asn
XM_017010010.1:c.787G>A	XP_016865499.1:p.Asp263Asn
NM_003900.5:c.1039G>A MANE Select	NP_003891.1:p.Asp347Asn
NM_001142298.2:c.787G>A	NP_001135770.1:p.Asp263Asn
NM_001142299.2:c.787G>A	NP_001135771.1:p.Asp263Asn