Canonical Allele Identifier: CA448070027
Gene: SQSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.179260757T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833757T>A , CM000667.2:g.179833757T>A GRCh38
NC_000005.9:g.179260757T>A , CM000667.1:g.179260757T>A GRCh37
NC_000005.8:g.179193363T>A NCBI36
NG_011342.1:g.32370T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1140T>A MANE Select ENSP00000374455.4:p.Ala380=
ENST00000360718.5:c.888T>A ENSP00000353944.5:p.Ala296=
ENST00000389805.8:c.1140T>A ENSP00000374455.4:p.Ala380=
ENST00000510187.5:c.950+530T>A ENSP00000424477.1:n.950+530T>A
NM_001142298.1:c.888T>A NP_001135770.1:p.Ala296=
NM_001142299.1:c.888T>A NP_001135771.1:p.Ala296=
NM_003900.4:c.1140T>A NP_003891.1:p.Ala380=
XM_017010010.1:c.888T>A XP_016865499.1:p.Ala296=
NM_003900.5:c.1140T>A MANE Select NP_003891.1:p.Ala380=
NM_001142298.2:c.888T>A NP_001135770.1:p.Ala296=
NM_001142299.2:c.888T>A NP_001135771.1:p.Ala296=