Canonical Allele Identifier: CA3600774
Gene: SQSTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475410
ClinVar RCV Id: RCV000553632 RCV001155513 RCV001579386 RCV001619791 RCV002497188
dbSNP Id: rs146164139
ExAC: 5:179260601 G / A
gnomAD v2: 5-179260601-G-A
gnomAD v3: 5-179833601-G-A
gnomAD v4: 5-179833601-G-A
MyVariant Identifiers: chr5:g.179260601G>A (hg19) chr5:g.179833601G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833601G>A , CM000667.2:g.179833601G>A GRCh38
NC_000005.9:g.179260601G>A , CM000667.1:g.179260601G>A GRCh37
NC_000005.8:g.179193207G>A NCBI36
NG_011342.1:g.32214G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.984G>A MANE Select ENSP00000374455.4:p.Ser328=
ENST00000360718.5:c.732G>A ENSP00000353944.5:p.Ser244=
ENST00000389805.8:c.984G>A ENSP00000374455.4:p.Ser328=
ENST00000510187.5:c.950+374G>A ENSP00000424477.1:n.950+374G>A
NM_001142298.1:c.732G>A NP_001135770.1:p.Ser244=
NM_001142299.1:c.732G>A NP_001135771.1:p.Ser244=
NM_003900.4:c.984G>A NP_003891.1:p.Ser328=
XM_017010010.1:c.732G>A XP_016865499.1:p.Ser244=
NM_003900.5:c.984G>A MANE Select NP_003891.1:p.Ser328=
NM_001142298.2:c.732G>A NP_001135770.1:p.Ser244=
NM_001142299.2:c.732G>A NP_001135771.1:p.Ser244=
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