Canonical Allele Identifier: CA3600800
Gene: SQSTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448529
dbSNP Id: rs143956614

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833725T>C , CM000667.2:g.179833725T>C GRCh38
NC_000005.9:g.179260725T>C , CM000667.1:g.179260725T>C GRCh37
NC_000005.8:g.179193331T>C NCBI36
NG_011342.1:g.32338T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1108T>C MANE Select ENSP00000374455.4:p.Ser370Pro
ENST00000360718.5:c.856T>C ENSP00000353944.5:p.Ser286Pro
ENST00000389805.8:c.1108T>C ENSP00000374455.4:p.Ser370Pro
ENST00000510187.5:c.950+498T>C ENSP00000424477.1:n.950+498T>C
NM_001142298.1:c.856T>C NP_001135770.1:p.Ser286Pro
NM_001142299.1:c.856T>C NP_001135771.1:p.Ser286Pro
NM_003900.4:c.1108T>C NP_003891.1:p.Ser370Pro
XM_017010010.1:c.856T>C XP_016865499.1:p.Ser286Pro
NM_003900.5:c.1108T>C MANE Select NP_003891.1:p.Ser370Pro
NM_001142298.2:c.856T>C NP_001135770.1:p.Ser286Pro
NM_001142299.2:c.856T>C NP_001135771.1:p.Ser286Pro