Canonical Allele Identifier: CA3600562

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179824197C>T , CM000667.2:g.179824197C>T	GRCh38
NC_000005.9:g.179251197C>T , CM000667.1:g.179251197C>T	GRCh37
NC_000005.8:g.179183803C>T	NCBI36
NG_011342.1:g.22810C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.547C>T MANE Select	NP_003891.1:p.Arg183Cys
ENST00000389805.9:c.547C>T MANE Select	ENSP00000374455.4:p.Arg183Cys
NM_001142298.1:c.295C>T	NP_001135770.1:p.Arg99Cys
NM_001142298.2:c.295C>T	NP_001135770.1:p.Arg99Cys
NM_001142299.1:c.295C>T	NP_001135771.1:p.Arg99Cys
NM_001142299.2:c.295C>T	NP_001135771.1:p.Arg99Cys
NM_003900.4:c.547C>T	NP_003891.1:p.Arg183Cys
ENST00000360718.5:c.295C>T	ENSP00000353944.5:p.Arg99Cys
ENST00000389805.8:c.547C>T	ENSP00000374455.4:p.Arg183Cys
ENST00000422245.5:c.295C>T	ENSP00000394534.1:p.Arg99Cys
ENST00000464493.5:n.442C>T
ENST00000466342.1:n.246C>T
ENST00000485412.1:n.539C>T
ENST00000508284.5:c.*269C>T	ENSP00000424195.1:n.*269C>T
ENST00000510187.5:c.547C>T	ENSP00000424477.1:p.Arg183Cys
ENST00000514093.5:c.295C>T	ENSP00000427308.1:p.Arg99Cys
XM_017010010.1:c.295C>T	XP_016865499.1:p.Arg99Cys