Canonical Allele Identifier: CA362452478

Gene: SQSTM1

Linked Data

• MyVariant Identifiers: chr5:g.179260630G>A (hg19) ; chr5:g.179833630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833630G>A , CM000667.2:g.179833630G>A	GRCh38
NC_000005.9:g.179260630G>A , CM000667.1:g.179260630G>A	GRCh37
NC_000005.8:g.179193236G>A	NCBI36
NG_011342.1:g.32243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1013G>A MANE Select	ENSP00000374455.4:p.Trp338Ter
ENST00000360718.5:c.761G>A	ENSP00000353944.5:p.Trp254Ter
ENST00000389805.8:c.1013G>A	ENSP00000374455.4:p.Trp338Ter
ENST00000510187.5:c.950+403G>A	ENSP00000424477.1:n.950+403G>A
NM_001142298.1:c.761G>A	NP_001135770.1:p.Trp254Ter
NM_001142299.1:c.761G>A	NP_001135771.1:p.Trp254Ter
NM_003900.4:c.1013G>A	NP_003891.1:p.Trp338Ter
XM_017010010.1:c.761G>A	XP_016865499.1:p.Trp254Ter
NM_003900.5:c.1013G>A MANE Select	NP_003891.1:p.Trp338Ter
NM_001142298.2:c.761G>A	NP_001135770.1:p.Trp254Ter
NM_001142299.2:c.761G>A	NP_001135771.1:p.Trp254Ter