Canonical Allele Identifier: CA448069379
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179260670T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833670T>A , CM000667.2:g.179833670T>A GRCh38
NC_000005.9:g.179260670T>A , CM000667.1:g.179260670T>A GRCh37
NC_000005.8:g.179193276T>A NCBI36
NG_011342.1:g.32283T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1053T>A MANE Select ENSP00000374455.4:p.Gly351=
ENST00000360718.5:c.801T>A ENSP00000353944.5:p.Gly267=
ENST00000389805.8:c.1053T>A ENSP00000374455.4:p.Gly351=
ENST00000510187.5:c.950+443T>A ENSP00000424477.1:n.950+443T>A
NM_001142298.1:c.801T>A NP_001135770.1:p.Gly267=
NM_001142299.1:c.801T>A NP_001135771.1:p.Gly267=
NM_003900.4:c.1053T>A NP_003891.1:p.Gly351=
XM_017010010.1:c.801T>A XP_016865499.1:p.Gly267=
NM_003900.5:c.1053T>A MANE Select NP_003891.1:p.Gly351=
NM_001142298.2:c.801T>A NP_001135770.1:p.Gly267=
NM_001142299.2:c.801T>A NP_001135771.1:p.Gly267=