Canonical Allele Identifier: CA448061305

Gene: SQSTM1

Linked Data

• gnomAD v4: 5-179823946-C-G
• MyVariant Identifiers: chr5:g.179250946C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823946C>G , CM000667.2:g.179823946C>G	GRCh38
NC_000005.9:g.179250946C>G , CM000667.1:g.179250946C>G	GRCh37
NC_000005.8:g.179183552C>G	NCBI36
NG_011342.1:g.22559C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.390C>G MANE Select	ENSP00000374455.4:p.Gly130=
ENST00000360718.5:c.138C>G	ENSP00000353944.5:p.Gly46=
ENST00000389805.8:c.390C>G	ENSP00000374455.4:p.Gly130=
ENST00000422245.5:c.138C>G	ENSP00000394534.1:p.Gly46=
ENST00000464493.5:n.285C>G
ENST00000466342.1:n.89C>G
ENST00000481335.5:n.540C>G
ENST00000485412.1:n.382C>G
ENST00000504627.1:c.459C>G	ENSP00000425957.1:p.Gly153=
ENST00000508284.5:c.*112C>G	ENSP00000424195.1:n.*112C>G
ENST00000510187.5:c.390C>G	ENSP00000424477.1:p.Gly130=
ENST00000514093.5:c.138C>G	ENSP00000427308.1:p.Gly46=
NM_001142298.1:c.138C>G	NP_001135770.1:p.Gly46=
NM_001142299.1:c.138C>G	NP_001135771.1:p.Gly46=
NM_003900.4:c.390C>G	NP_003891.1:p.Gly130=
XM_017010010.1:c.138C>G	XP_016865499.1:p.Gly46=
NM_003900.5:c.390C>G MANE Select	NP_003891.1:p.Gly130=
NM_001142298.2:c.138C>G	NP_001135770.1:p.Gly46=
NM_001142299.2:c.138C>G	NP_001135771.1:p.Gly46=