Canonical Allele Identifier: CA448061339
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179250973C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179823973C>T , CM000667.2:g.179823973C>T GRCh38
NC_000005.9:g.179250973C>T , CM000667.1:g.179250973C>T GRCh37
NC_000005.8:g.179183579C>T NCBI36
NG_011342.1:g.22586C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.417C>T MANE Select ENSP00000374455.4:p.Arg139=
ENST00000360718.5:c.165C>T ENSP00000353944.5:p.Arg55=
ENST00000389805.8:c.417C>T ENSP00000374455.4:p.Arg139=
ENST00000422245.5:c.165C>T ENSP00000394534.1:p.Arg55=
ENST00000464493.5:n.312C>T
ENST00000466342.1:n.116C>T
ENST00000485412.1:n.409C>T
ENST00000504627.1:c.486C>T ENSP00000425957.1:p.Arg162=
ENST00000508284.5:c.*139C>T ENSP00000424195.1:n.*139C>T
ENST00000510187.5:c.417C>T ENSP00000424477.1:p.Arg139=
ENST00000514093.5:c.165C>T ENSP00000427308.1:p.Arg55=
NM_001142298.1:c.165C>T NP_001135770.1:p.Arg55=
NM_001142299.1:c.165C>T NP_001135771.1:p.Arg55=
NM_003900.4:c.417C>T NP_003891.1:p.Arg139=
XM_017010010.1:c.165C>T XP_016865499.1:p.Arg55=
NM_003900.5:c.417C>T MANE Select NP_003891.1:p.Arg139=
NM_001142298.2:c.165C>T NP_001135770.1:p.Arg55=
NM_001142299.2:c.165C>T NP_001135771.1:p.Arg55=