Canonical Allele Identifier: CA3600669
Gene: SQSTM1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.179833040G>C
GRCh37 chr5:g.179260040G>C
Revel Score:
ENST00000376929 0.524
ENST00000389805 (MANE Select) 0.524
ENST00000454378 0.524
ENST00000402874 0.524
ENST00000510187 0.524
ENST00000360718 0.524
gnomAD v2:
5:179260040 G / C
gnomAD v3:
5:179833040 G / C
gnomAD v4:
chr5-179833040-G-C
Joint Max Group AF 0.00035921 (AMR)
Genomes Max Group AF 0.0000528 (AMR)
Exomes Max Group AF 0.00042541 (AMR)
ClinVar Allele:
455004
ClinVar RCV:
RCV000544306
ClinVar Variation:
475404
dbSNP:
182522590
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833040G>C , CM000667.2:g.179833040G>C GRCh38
NC_000005.9:g.179260040G>C , CM000667.1:g.179260040G>C GRCh37
NC_000005.8:g.179192646G>C NCBI36
NG_011342.1:g.31653G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.763G>C MANE Select ENSP00000374455.4:p.Val255Leu
ENST00000360718.5:c.511G>C ENSP00000353944.5:p.Val171Leu
ENST00000389805.8:c.763G>C ENSP00000374455.4:p.Val255Leu
ENST00000466342.1:n.462G>C
ENST00000510187.5:c.763G>C ENSP00000424477.1:p.Val255Leu
NM_001142298.1:c.511G>C NP_001135770.1:p.Val171Leu
NM_001142299.1:c.511G>C NP_001135771.1:p.Val171Leu
NM_003900.4:c.763G>C NP_003891.1:p.Val255Leu
XM_017010010.1:c.511G>C XP_016865499.1:p.Val171Leu
NM_003900.5:c.763G>C MANE Select NP_003891.1:p.Val255Leu
NM_001142298.2:c.511G>C NP_001135770.1:p.Val171Leu
NM_001142299.2:c.511G>C NP_001135771.1:p.Val171Leu
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