Canonical Allele Identifier: CA362452401
Gene: SQSTM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833610T>G , CM000667.2:g.179833610T>G GRCh38
NC_000005.9:g.179260610T>G , CM000667.1:g.179260610T>G GRCh37
NC_000005.8:g.179193216T>G NCBI36
NG_011342.1:g.32223T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.993T>G MANE Select ENSP00000374455.4:p.Cys331Trp
ENST00000360718.5:c.741T>G ENSP00000353944.5:p.Cys247Trp
ENST00000389805.8:c.993T>G ENSP00000374455.4:p.Cys331Trp
ENST00000510187.5:c.950+383T>G ENSP00000424477.1:n.950+383T>G
NM_001142298.1:c.741T>G NP_001135770.1:p.Cys247Trp
NM_001142299.1:c.741T>G NP_001135771.1:p.Cys247Trp
NM_003900.4:c.993T>G NP_003891.1:p.Cys331Trp
XM_017010010.1:c.741T>G XP_016865499.1:p.Cys247Trp
NM_003900.5:c.993T>G MANE Select NP_003891.1:p.Cys331Trp
NM_001142298.2:c.741T>G NP_001135770.1:p.Cys247Trp
NM_001142299.2:c.741T>G NP_001135771.1:p.Cys247Trp