Canonical Allele Identifier: CA362443649

Gene: SQSTM1

Linked Data

• MyVariant Identifiers: chr5:g.179250945G>A (hg19) ; chr5:g.179823945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823945G>A , CM000667.2:g.179823945G>A	GRCh38
NC_000005.9:g.179250945G>A , CM000667.1:g.179250945G>A	GRCh37
NC_000005.8:g.179183551G>A	NCBI36
NG_011342.1:g.22558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.389G>A MANE Select	ENSP00000374455.4:p.Gly130Asp
ENST00000360718.5:c.137G>A	ENSP00000353944.5:p.Gly46Asp
ENST00000389805.8:c.389G>A	ENSP00000374455.4:p.Gly130Asp
ENST00000422245.5:c.137G>A	ENSP00000394534.1:p.Gly46Asp
ENST00000464493.5:n.284G>A
ENST00000466342.1:n.88G>A
ENST00000481335.5:n.539G>A
ENST00000485412.1:n.381G>A
ENST00000504627.1:c.458G>A	ENSP00000425957.1:p.Gly153Asp
ENST00000508284.5:c.*111G>A	ENSP00000424195.1:n.*111G>A
ENST00000510187.5:c.389G>A	ENSP00000424477.1:p.Gly130Asp
ENST00000514093.5:c.137G>A	ENSP00000427308.1:p.Gly46Asp
NM_001142298.1:c.137G>A	NP_001135770.1:p.Gly46Asp
NM_001142299.1:c.137G>A	NP_001135771.1:p.Gly46Asp
NM_003900.4:c.389G>A	NP_003891.1:p.Gly130Asp
XM_017010010.1:c.137G>A	XP_016865499.1:p.Gly46Asp
NM_003900.5:c.389G>A MANE Select	NP_003891.1:p.Gly130Asp
NM_001142298.2:c.137G>A	NP_001135770.1:p.Gly46Asp
NM_001142299.2:c.137G>A	NP_001135771.1:p.Gly46Asp