Canonical Allele Identifier: CA1604334111
Gene: SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833676C= , CM000667.2:g.179833676C= GRCh38
NC_000005.9:g.179260676C= , CM000667.1:g.179260676C= GRCh37
NC_000005.8:g.179193282C= NCBI36
NG_011342.1:g.32289C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1059C= MANE Select ENSP00000374455.4:p.Leu353=
ENST00000360718.5:c.807C= ENSP00000353944.5:p.Leu269=
ENST00000389805.8:c.1059C= ENSP00000374455.4:p.Leu353=
ENST00000510187.5:c.950+449C= ENSP00000424477.1:n.950+449C=
NM_001142298.1:c.807C= NP_001135770.1:p.Leu269=
NM_001142299.1:c.807C= NP_001135771.1:p.Leu269=
NM_003900.4:c.1059C= NP_003891.1:p.Leu353=
XM_017010010.1:c.807C= XP_016865499.1:p.Leu269=
NM_003900.5:c.1059C= MANE Select NP_003891.1:p.Leu353=
NM_001142298.2:c.807C= NP_001135770.1:p.Leu269=
NM_001142299.2:c.807C= NP_001135771.1:p.Leu269=