Canonical Allele Identifier: CA3600563

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179824198G>A , CM000667.2:g.179824198G>A	GRCh38
NC_000005.9:g.179251198G>A , CM000667.1:g.179251198G>A	GRCh37
NC_000005.8:g.179183804G>A	NCBI36
NG_011342.1:g.22811G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.548G>A MANE Select	NP_003891.1:p.Arg183His
ENST00000389805.9:c.548G>A MANE Select	ENSP00000374455.4:p.Arg183His
NM_001142298.1:c.296G>A	NP_001135770.1:p.Arg99His
NM_001142298.2:c.296G>A	NP_001135770.1:p.Arg99His
NM_001142299.1:c.296G>A	NP_001135771.1:p.Arg99His
NM_001142299.2:c.296G>A	NP_001135771.1:p.Arg99His
NM_003900.4:c.548G>A	NP_003891.1:p.Arg183His
ENST00000360718.5:c.296G>A	ENSP00000353944.5:p.Arg99His
ENST00000389805.8:c.548G>A	ENSP00000374455.4:p.Arg183His
ENST00000422245.5:c.296G>A	ENSP00000394534.1:p.Arg99His
ENST00000464493.5:n.443G>A
ENST00000466342.1:n.247G>A
ENST00000485412.1:n.540G>A
ENST00000508284.5:c.*270G>A	ENSP00000424195.1:n.*270G>A
ENST00000510187.5:c.548G>A	ENSP00000424477.1:p.Arg183His
ENST00000514093.5:c.296G>A	ENSP00000427308.1:p.Arg99His
XM_017010010.1:c.296G>A	XP_016865499.1:p.Arg99His