Canonical Allele Identifier: CA133109693

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 2935534
• ClinVar RCV Id: RCV003793628
• dbSNP Id: rs988739587
• MyVariant Identifiers: chr5:g.179260625T>C (hg19) ; chr5:g.179833625T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833625T>C , CM000667.2:g.179833625T>C	GRCh38
NC_000005.9:g.179260625T>C , CM000667.1:g.179260625T>C	GRCh37
NC_000005.8:g.179193231T>C	NCBI36
NG_011342.1:g.32238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.1008T>C MANE Select	ENSP00000374455.4:p.Asp336=
ENST00000360718.5:c.756T>C	ENSP00000353944.5:p.Asp252=
ENST00000389805.8:c.1008T>C	ENSP00000374455.4:p.Asp336=
ENST00000510187.5:c.950+398T>C	ENSP00000424477.1:n.950+398T>C
NM_001142298.1:c.756T>C	NP_001135770.1:p.Asp252=
NM_001142299.1:c.756T>C	NP_001135771.1:p.Asp252=
NM_003900.4:c.1008T>C	NP_003891.1:p.Asp336=
XM_017010010.1:c.756T>C	XP_016865499.1:p.Asp252=
NM_003900.5:c.1008T>C MANE Select	NP_003891.1:p.Asp336=
NM_001142298.2:c.756T>C	NP_001135770.1:p.Asp252=
NM_001142299.2:c.756T>C	NP_001135771.1:p.Asp252=