Canonical Allele Identifier: CA448061084
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179250889A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179823889A>T , CM000667.2:g.179823889A>T GRCh38
NC_000005.9:g.179250889A>T , CM000667.1:g.179250889A>T GRCh37
NC_000005.8:g.179183495A>T NCBI36
NG_011342.1:g.22502A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.333A>T MANE Select ENSP00000374455.4:p.Pro111=
ENST00000360718.5:c.81A>T ENSP00000353944.5:p.Pro27=
ENST00000389805.8:c.333A>T ENSP00000374455.4:p.Pro111=
ENST00000422245.5:c.81A>T ENSP00000394534.1:p.Pro27=
ENST00000453046.5:c.*268A>T ENSP00000405061.1:n.*268A>T
ENST00000464493.5:n.228A>T
ENST00000466342.1:n.32A>T
ENST00000481335.5:n.483A>T
ENST00000485412.1:n.325A>T
ENST00000504627.1:c.402A>T ENSP00000425957.1:p.Pro134=
ENST00000508284.5:c.*55A>T ENSP00000424195.1:n.*55A>T
ENST00000510187.5:c.333A>T ENSP00000424477.1:p.Pro111=
ENST00000514093.5:c.81A>T ENSP00000427308.1:p.Pro27=
NM_001142298.1:c.81A>T NP_001135770.1:p.Pro27=
NM_001142299.1:c.81A>T NP_001135771.1:p.Pro27=
NM_003900.4:c.333A>T NP_003891.1:p.Pro111=
XM_017010010.1:c.81A>T XP_016865499.1:p.Pro27=
NM_003900.5:c.333A>T MANE Select NP_003891.1:p.Pro111=
NM_001142298.2:c.81A>T NP_001135770.1:p.Pro27=
NM_001142299.2:c.81A>T NP_001135771.1:p.Pro27=