Canonical Allele Identifier: CA3600800
Gene: SQSTM1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.179833725T>C
GRCh37 chr5:g.179260725T>C
Revel Score:
ENST00000376929 0.272
ENST00000389805 (MANE Select) 0.272
ENST00000454378 0.272
ENST00000402874 0.272
ENST00000360718 0.272
gnomAD v2:
5:179260725 T / C
gnomAD v3:
5:179833725 T / C
gnomAD v4:
chr5-179833725-T-C
Joint Max Group AF 0.00661797 (AFR)
Genomes Max Group AF 0.00634311 (AFR)
Exomes Max Group AF 0.0065094 (AFR)
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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
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