Canonical Allele Identifier: CA362442577

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179821143T>C , CM000667.2:g.179821143T>C	GRCh38
NC_000005.9:g.179248143T>C , CM000667.1:g.179248143T>C	GRCh37
NC_000005.8:g.179180749T>C	NCBI36
NG_011342.1:g.19756T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.205+2T>C MANE Select	NP_003891.1:n.205+2T>C
ENST00000389805.9:c.205+2T>C MANE Select	ENSP00000374455.4:n.205+2T>C
NM_001142298.1:c.-47-1815T>C	NP_001135770.1:n.-47-1815T>C
NM_001142298.2:c.-47-1815T>C	NP_001135770.1:n.-47-1815T>C
NM_001142299.1:c.-47-1815T>C	NP_001135771.1:n.-47-1815T>C
NM_001142299.2:c.-47-1815T>C	NP_001135771.1:n.-47-1815T>C
NM_003900.4:c.205+2T>C	NP_003891.1:n.205+2T>C
ENST00000389805.8:c.205+2T>C	ENSP00000374455.4:n.205+2T>C
ENST00000422245.5:c.-47-1815T>C	ENSP00000394534.1:n.-47-1815T>C
ENST00000453046.5:c.205+2T>C	ENSP00000405061.1:n.205+2T>C
ENST00000464493.5:n.100+437T>C
ENST00000481335.5:n.355+756T>C
ENST00000504627.1:c.205+2T>C	ENSP00000425957.1:n.205+2T>C
ENST00000508284.5:c.205+2T>C	ENSP00000424195.1:n.205+2T>C
ENST00000510187.5:c.205+2T>C	ENSP00000424477.1:n.205+2T>C
ENST00000514093.5:c.-47-1815T>C	ENSP00000427308.1:n.-47-1815T>C
ENST00000626660.1:c.205+2T>C	ENSP00000487071.1:n.205+2T>C