Canonical Allele Identifier: CA3600618
Gene: SQSTM1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.179825159G>A
GRCh37 chr5:g.179252159G>A
gnomAD v2:
5:179252159 G / A
gnomAD v3:
5:179825159 G / A
gnomAD v4:
chr5-179825159-G-A
Joint Max Group AF 0.00017085 (EAS)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00019285 (EAS)
ClinVar Allele:
303458
ClinVar RCV:
RCV000293194
RCV001365629
ClinVar Variation:
353161
dbSNP:
140341924
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179825159G>A , CM000667.2:g.179825159G>A GRCh38
NC_000005.9:g.179252159G>A , CM000667.1:g.179252159G>A GRCh37
NC_000005.8:g.179184765G>A NCBI36
NG_011342.1:g.23772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.687G>A MANE Select ENSP00000374455.4:p.Ser229=
ENST00000360718.5:c.435G>A ENSP00000353944.5:p.Ser145=
ENST00000389805.8:c.687G>A ENSP00000374455.4:p.Ser229=
ENST00000466342.1:n.386G>A
ENST00000510187.5:c.687G>A ENSP00000424477.1:p.Ser229=
ENST00000514093.5:c.435G>A ENSP00000427308.1:p.Ser145=
NM_001142298.1:c.435G>A NP_001135770.1:p.Ser145=
NM_001142299.1:c.435G>A NP_001135771.1:p.Ser145=
NM_003900.4:c.687G>A NP_003891.1:p.Ser229=
XM_017010010.1:c.435G>A XP_016865499.1:p.Ser145=
NM_003900.5:c.687G>A MANE Select NP_003891.1:p.Ser229=
NM_001142298.2:c.435G>A NP_001135770.1:p.Ser145=
NM_001142299.2:c.435G>A NP_001135771.1:p.Ser145=
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