Canonical Allele Identifier: CA448069365
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179260667A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833667A>T , CM000667.2:g.179833667A>T GRCh38
NC_000005.9:g.179260667A>T , CM000667.1:g.179260667A>T GRCh37
NC_000005.8:g.179193273A>T NCBI36
NG_011342.1:g.32280A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1050A>T MANE Select ENSP00000374455.4:p.Thr350=
ENST00000360718.5:c.798A>T ENSP00000353944.5:p.Thr266=
ENST00000389805.8:c.1050A>T ENSP00000374455.4:p.Thr350=
ENST00000510187.5:c.950+440A>T ENSP00000424477.1:n.950+440A>T
NM_001142298.1:c.798A>T NP_001135770.1:p.Thr266=
NM_001142299.1:c.798A>T NP_001135771.1:p.Thr266=
NM_003900.4:c.1050A>T NP_003891.1:p.Thr350=
XM_017010010.1:c.798A>T XP_016865499.1:p.Thr266=
NM_003900.5:c.1050A>T MANE Select NP_003891.1:p.Thr350=
NM_001142298.2:c.798A>T NP_001135770.1:p.Thr266=
NM_001142299.2:c.798A>T NP_001135771.1:p.Thr266=