Canonical Allele Identifier: CA448061070
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179250886C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179823886C>G , CM000667.2:g.179823886C>G GRCh38
NC_000005.9:g.179250886C>G , CM000667.1:g.179250886C>G GRCh37
NC_000005.8:g.179183492C>G NCBI36
NG_011342.1:g.22499C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.330C>G MANE Select ENSP00000374455.4:p.Arg110=
ENST00000360718.5:c.78C>G ENSP00000353944.5:p.Arg26=
ENST00000389805.8:c.330C>G ENSP00000374455.4:p.Arg110=
ENST00000422245.5:c.78C>G ENSP00000394534.1:p.Arg26=
ENST00000453046.5:c.*265C>G ENSP00000405061.1:n.*265C>G
ENST00000464493.5:n.225C>G
ENST00000466342.1:n.29C>G
ENST00000481335.5:n.480C>G
ENST00000485412.1:n.322C>G
ENST00000504627.1:c.399C>G ENSP00000425957.1:p.Arg133=
ENST00000508284.5:c.*52C>G ENSP00000424195.1:n.*52C>G
ENST00000510187.5:c.330C>G ENSP00000424477.1:p.Arg110=
ENST00000514093.5:c.78C>G ENSP00000427308.1:p.Arg26=
NM_001142298.1:c.78C>G NP_001135770.1:p.Arg26=
NM_001142299.1:c.78C>G NP_001135771.1:p.Arg26=
NM_003900.4:c.330C>G NP_003891.1:p.Arg110=
XM_017010010.1:c.78C>G XP_016865499.1:p.Arg26=
NM_003900.5:c.330C>G MANE Select NP_003891.1:p.Arg110=
NM_001142298.2:c.78C>G NP_001135770.1:p.Arg26=
NM_001142299.2:c.78C>G NP_001135771.1:p.Arg26=