Canonical Allele Identifier: CA448061394
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179250997C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179823997C>T , CM000667.2:g.179823997C>T GRCh38
NC_000005.9:g.179250997C>T , CM000667.1:g.179250997C>T GRCh37
NC_000005.8:g.179183603C>T NCBI36
NG_011342.1:g.22610C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.441C>T MANE Select ENSP00000374455.4:p.Asp147=
ENST00000360718.5:c.189C>T ENSP00000353944.5:p.Asp63=
ENST00000389805.8:c.441C>T ENSP00000374455.4:p.Asp147=
ENST00000422245.5:c.189C>T ENSP00000394534.1:p.Asp63=
ENST00000464493.5:n.336C>T
ENST00000466342.1:n.140C>T
ENST00000485412.1:n.433C>T
ENST00000504627.1:c.510C>T ENSP00000425957.1:p.Asp170=
ENST00000508284.5:c.*163C>T ENSP00000424195.1:n.*163C>T
ENST00000510187.5:c.441C>T ENSP00000424477.1:p.Asp147=
ENST00000514093.5:c.189C>T ENSP00000427308.1:p.Asp63=
NM_001142298.1:c.189C>T NP_001135770.1:p.Asp63=
NM_001142299.1:c.189C>T NP_001135771.1:p.Asp63=
NM_003900.4:c.441C>T NP_003891.1:p.Asp147=
XM_017010010.1:c.189C>T XP_016865499.1:p.Asp63=
NM_003900.5:c.441C>T MANE Select NP_003891.1:p.Asp147=
NM_001142298.2:c.189C>T NP_001135770.1:p.Asp63=
NM_001142299.2:c.189C>T NP_001135771.1:p.Asp63=