Canonical Allele Identifier: CA448061359

Gene: SQSTM1

Linked Data

• gnomAD v4: 5-179823988-C-A
• MyVariant Identifiers: chr5:g.179250988C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823988C>A , CM000667.2:g.179823988C>A	GRCh38
NC_000005.9:g.179250988C>A , CM000667.1:g.179250988C>A	GRCh37
NC_000005.8:g.179183594C>A	NCBI36
NG_011342.1:g.22601C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.432C>A MANE Select	ENSP00000374455.4:p.Val144=
ENST00000360718.5:c.180C>A	ENSP00000353944.5:p.Val60=
ENST00000389805.8:c.432C>A	ENSP00000374455.4:p.Val144=
ENST00000422245.5:c.180C>A	ENSP00000394534.1:p.Val60=
ENST00000464493.5:n.327C>A
ENST00000466342.1:n.131C>A
ENST00000485412.1:n.424C>A
ENST00000504627.1:c.501C>A	ENSP00000425957.1:p.Val167=
ENST00000508284.5:c.*154C>A	ENSP00000424195.1:n.*154C>A
ENST00000510187.5:c.432C>A	ENSP00000424477.1:p.Val144=
ENST00000514093.5:c.180C>A	ENSP00000427308.1:p.Val60=
NM_001142298.1:c.180C>A	NP_001135770.1:p.Val60=
NM_001142299.1:c.180C>A	NP_001135771.1:p.Val60=
NM_003900.4:c.432C>A	NP_003891.1:p.Val144=
XM_017010010.1:c.180C>A	XP_016865499.1:p.Val60=
NM_003900.5:c.432C>A MANE Select	NP_003891.1:p.Val144=
NM_001142298.2:c.180C>A	NP_001135770.1:p.Val60=
NM_001142299.2:c.180C>A	NP_001135771.1:p.Val60=