Canonical Allele Identifier: CA362443062

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179822996G>T , CM000667.2:g.179822996G>T	GRCh38
NC_000005.9:g.179249996G>T , CM000667.1:g.179249996G>T	GRCh37
NC_000005.8:g.179182602G>T	NCBI36
NG_011342.1:g.21609G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.244G>T MANE Select	NP_003891.1:p.Glu82Ter
ENST00000389805.9:c.244G>T MANE Select	ENSP00000374455.4:p.Glu82Ter
NM_001142298.1:c.-9G>T	NP_001135770.1:n.-9G>T
NM_001142298.2:c.-9G>T	NP_001135770.1:n.-9G>T
NM_001142299.1:c.-9G>T	NP_001135771.1:n.-9G>T
NM_001142299.2:c.-9G>T	NP_001135771.1:n.-9G>T
NM_003900.4:c.244G>T	NP_003891.1:p.Glu82Ter
ENST00000360718.5:c.-9G>T	ENSP00000353944.5:n.-9G>T
ENST00000389805.8:c.244G>T	ENSP00000374455.4:p.Glu82Ter
ENST00000422245.5:c.-9G>T	ENSP00000394534.1:n.-9G>T
ENST00000453046.5:c.*179G>T	ENSP00000405061.1:n.*179G>T
ENST00000464493.5:n.139G>T
ENST00000481335.5:n.394G>T
ENST00000504627.1:c.313G>T	ENSP00000425957.1:p.Glu105Ter
ENST00000508284.5:c.206-30G>T	ENSP00000424195.1:n.206-30G>T
ENST00000510187.5:c.244G>T	ENSP00000424477.1:p.Glu82Ter
ENST00000514093.5:c.-9G>T	ENSP00000427308.1:n.-9G>T
XM_017010010.1:c.-9G>T	XP_016865499.1:n.-9G>T