Canonical Allele Identifier: CA3600414

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179822956A>G , CM000667.2:g.179822956A>G	GRCh38
NC_000005.9:g.179249956A>G , CM000667.1:g.179249956A>G	GRCh37
NC_000005.8:g.179182562A>G	NCBI36
NG_011342.1:g.21569A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.206-2A>G MANE Select	NP_003891.1:n.206-2A>G
ENST00000389805.9:c.206-2A>G MANE Select	ENSP00000374455.4:n.206-2A>G
NM_001142298.1:c.-47-2A>G	NP_001135770.1:n.-47-2A>G
NM_001142298.2:c.-47-2A>G	NP_001135770.1:n.-47-2A>G
NM_001142299.1:c.-47-2A>G	NP_001135771.1:n.-47-2A>G
NM_001142299.2:c.-47-2A>G	NP_001135771.1:n.-47-2A>G
NM_003900.4:c.206-2A>G	NP_003891.1:n.206-2A>G
ENST00000360718.5:c.-49A>G	ENSP00000353944.5:n.-49A>G
ENST00000389805.8:c.206-2A>G	ENSP00000374455.4:n.206-2A>G
ENST00000422245.5:c.-47-2A>G	ENSP00000394534.1:n.-47-2A>G
ENST00000453046.5:c.*141-2A>G	ENSP00000405061.1:n.*141-2A>G
ENST00000464493.5:n.101-2A>G
ENST00000481335.5:n.356-2A>G
ENST00000504627.1:c.273A>G	ENSP00000425957.1:p.Leu91=
ENST00000508284.5:c.206-70A>G	ENSP00000424195.1:n.206-70A>G
ENST00000510187.5:c.206-2A>G	ENSP00000424477.1:n.206-2A>G
ENST00000514093.5:c.-47-2A>G	ENSP00000427308.1:n.-47-2A>G
XM_017010010.1:c.-47-2A>G	XP_016865499.1:n.-47-2A>G