Canonical Allele Identifier: CA203868
Gene: SQSTM1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.179833777C>T
GRCh37 chr5:g.179260777C>T
Revel Score:
ENST00000376929 0.713
ENST00000389805 (MANE Select) 0.713
ENST00000454378 0.713
ENST00000402874 0.713
ENST00000360718 0.713
gnomAD v2:
5:179260777 C / T
gnomAD v3:
5:179833777 C / T
gnomAD v4:
chr5-179833777-C-T
Joint Max Group AF 0.0001336 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00014138 (MID)
ClinVar Allele:
198652
ClinVar RCV:
RCV000184065
RCV000481808
RCV001323701
ClinVar Variation:
202211
dbSNP:
776749939
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833777C>T , CM000667.2:g.179833777C>T GRCh38
NC_000005.9:g.179260777C>T , CM000667.1:g.179260777C>T GRCh37
NC_000005.8:g.179193383C>T NCBI36
NG_011342.1:g.32390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1160C>T MANE Select ENSP00000374455.4:p.Pro387Leu
ENST00000360718.5:c.908C>T ENSP00000353944.5:p.Pro303Leu
ENST00000389805.8:c.1160C>T ENSP00000374455.4:p.Pro387Leu
ENST00000510187.5:c.950+550C>T ENSP00000424477.1:n.950+550C>T
NM_001142298.1:c.908C>T NP_001135770.1:p.Pro303Leu
NM_001142299.1:c.908C>T NP_001135771.1:p.Pro303Leu
NM_003900.4:c.1160C>T NP_003891.1:p.Pro387Leu
XM_017010010.1:c.908C>T XP_016865499.1:p.Pro303Leu
NM_003900.5:c.1160C>T MANE Select NP_003891.1:p.Pro387Leu
NM_001142298.2:c.908C>T NP_001135770.1:p.Pro303Leu
NM_001142299.2:c.908C>T NP_001135771.1:p.Pro303Leu
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