Canonical Allele Identifier: CA3600440

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823047A>C , CM000667.2:g.179823047A>C	GRCh38
NC_000005.9:g.179250047A>C , CM000667.1:g.179250047A>C	GRCh37
NC_000005.8:g.179182653A>C	NCBI36
NG_011342.1:g.21660A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.295A>C MANE Select	NP_003891.1:p.Ile99Leu
ENST00000389805.9:c.295A>C MANE Select	ENSP00000374455.4:p.Ile99Leu
NM_001142298.1:c.43A>C	NP_001135770.1:p.Ile15Leu
NM_001142298.2:c.43A>C	NP_001135770.1:p.Ile15Leu
NM_001142299.1:c.43A>C	NP_001135771.1:p.Ile15Leu
NM_001142299.2:c.43A>C	NP_001135771.1:p.Ile15Leu
NM_003900.4:c.295A>C	NP_003891.1:p.Ile99Leu
ENST00000360718.5:c.43A>C	ENSP00000353944.5:p.Ile15Leu
ENST00000389805.8:c.295A>C	ENSP00000374455.4:p.Ile99Leu
ENST00000422245.5:c.43A>C	ENSP00000394534.1:p.Ile15Leu
ENST00000453046.5:c.*230A>C	ENSP00000405061.1:n.*230A>C
ENST00000464493.5:n.190A>C
ENST00000481335.5:n.445A>C
ENST00000504627.1:c.364A>C	ENSP00000425957.1:p.Ile122Leu
ENST00000508284.5:c.*17A>C	ENSP00000424195.1:n.*17A>C
ENST00000510187.5:c.295A>C	ENSP00000424477.1:p.Ile99Leu
ENST00000514093.5:c.43A>C	ENSP00000427308.1:p.Ile15Leu
XM_017010010.1:c.43A>C	XP_016865499.1:p.Ile15Leu