Canonical Allele Identifier: CA1604334220

Gene: SQSTM1

Linked Data

• dbSNP Id: rs1758366501
• gnomAD v4: 5-179833848-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833848G>C , CM000667.2:g.179833848G>C	GRCh38
NC_000005.9:g.179260848G>C , CM000667.1:g.179260848G>C	GRCh37
NC_000005.8:g.179193454G>C	NCBI36
NG_011342.1:g.32461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1165+66G>C MANE Select	ENSP00000374455.4:n.1165+66G>C
ENST00000360718.5:c.913+66G>C	ENSP00000353944.5:n.913+66G>C
ENST00000389805.8:c.1165+66G>C	ENSP00000374455.4:n.1165+66G>C
ENST00000510187.5:c.950+621G>C	ENSP00000424477.1:n.950+621G>C
NM_001142298.1:c.913+66G>C	NP_001135770.1:n.913+66G>C
NM_001142299.1:c.913+66G>C	NP_001135771.1:n.913+66G>C
NM_003900.4:c.1165+66G>C	NP_003891.1:n.1165+66G>C
XM_017010010.1:c.913+66G>C	XP_016865499.1:n.913+66G>C
NM_003900.5:c.1165+66G>C MANE Select	NP_003891.1:n.1165+66G>C
NM_001142298.2:c.913+66G>C	NP_001135770.1:n.913+66G>C
NM_001142299.2:c.913+66G>C	NP_001135771.1:n.913+66G>C