Canonical Allele Identifier: CA448061165
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179250910C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179823910C>A , CM000667.2:g.179823910C>A GRCh38
NC_000005.9:g.179250910C>A , CM000667.1:g.179250910C>A GRCh37
NC_000005.8:g.179183516C>A NCBI36
NG_011342.1:g.22523C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.354C>A MANE Select ENSP00000374455.4:p.Pro118=
ENST00000360718.5:c.102C>A ENSP00000353944.5:p.Pro34=
ENST00000389805.8:c.354C>A ENSP00000374455.4:p.Pro118=
ENST00000422245.5:c.102C>A ENSP00000394534.1:p.Pro34=
ENST00000453046.5:c.*289C>A ENSP00000405061.1:n.*289C>A
ENST00000464493.5:n.249C>A
ENST00000466342.1:n.53C>A
ENST00000481335.5:n.504C>A
ENST00000485412.1:n.346C>A
ENST00000504627.1:c.423C>A ENSP00000425957.1:p.Pro141=
ENST00000508284.5:c.*76C>A ENSP00000424195.1:n.*76C>A
ENST00000510187.5:c.354C>A ENSP00000424477.1:p.Pro118=
ENST00000514093.5:c.102C>A ENSP00000427308.1:p.Pro34=
NM_001142298.1:c.102C>A NP_001135770.1:p.Pro34=
NM_001142299.1:c.102C>A NP_001135771.1:p.Pro34=
NM_003900.4:c.354C>A NP_003891.1:p.Pro118=
XM_017010010.1:c.102C>A XP_016865499.1:p.Pro34=
NM_003900.5:c.354C>A MANE Select NP_003891.1:p.Pro118=
NM_001142298.2:c.102C>A NP_001135770.1:p.Pro34=
NM_001142299.2:c.102C>A NP_001135771.1:p.Pro34=