Canonical Allele Identifier: CA362452660

Gene: SQSTM1

Linked Data

• gnomAD v4: 5-179833674-C-T
• MyVariant Identifiers: chr5:g.179260674C>T (hg19) ; chr5:g.179833674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833674C>T , CM000667.2:g.179833674C>T	GRCh38
NC_000005.9:g.179260674C>T , CM000667.1:g.179260674C>T	GRCh37
NC_000005.8:g.179193280C>T	NCBI36
NG_011342.1:g.32287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1057C>T MANE Select	ENSP00000374455.4:p.Leu353Phe
ENST00000360718.5:c.805C>T	ENSP00000353944.5:p.Leu269Phe
ENST00000389805.8:c.1057C>T	ENSP00000374455.4:p.Leu353Phe
ENST00000510187.5:c.950+447C>T	ENSP00000424477.1:n.950+447C>T
NM_001142298.1:c.805C>T	NP_001135770.1:p.Leu269Phe
NM_001142299.1:c.805C>T	NP_001135771.1:p.Leu269Phe
NM_003900.4:c.1057C>T	NP_003891.1:p.Leu353Phe
XM_017010010.1:c.805C>T	XP_016865499.1:p.Leu269Phe
NM_003900.5:c.1057C>T MANE Select	NP_003891.1:p.Leu353Phe
NM_001142298.2:c.805C>T	NP_001135770.1:p.Leu269Phe
NM_001142299.2:c.805C>T	NP_001135771.1:p.Leu269Phe