Canonical Allele Identifier: CA3600727
Gene: SQSTM1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.179833201G>A
GRCh37 chr5:g.179260201G>A
gnomAD v2:
5:179260201 G / A
gnomAD v3:
5:179833201 G / A
gnomAD v4:
chr5-179833201-G-A
Joint Max Group AF 0.00102151 (MID)
Genomes Max Group AF 0.00197332 (AMR)
Exomes Max Group AF 0.00107348 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833201G>A , CM000667.2:g.179833201G>A GRCh38
NC_000005.9:g.179260201G>A , CM000667.1:g.179260201G>A GRCh37
NC_000005.8:g.179192807G>A NCBI36
NG_011342.1:g.31814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.924G>A MANE Select ENSP00000374455.4:p.Ala308=
ENST00000360718.5:c.672G>A ENSP00000353944.5:p.Ala224=
ENST00000389805.8:c.924G>A ENSP00000374455.4:p.Ala308=
ENST00000466342.1:n.623G>A
ENST00000510187.5:c.924G>A ENSP00000424477.1:p.Ala308=
NM_001142298.1:c.672G>A NP_001135770.1:p.Ala224=
NM_001142299.1:c.672G>A NP_001135771.1:p.Ala224=
NM_003900.4:c.924G>A NP_003891.1:p.Ala308=
XM_017010010.1:c.672G>A XP_016865499.1:p.Ala224=
NM_003900.5:c.924G>A MANE Select NP_003891.1:p.Ala308=
NM_001142298.2:c.672G>A NP_001135770.1:p.Ala224=
NM_001142299.2:c.672G>A NP_001135771.1:p.Ala224=
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