Canonical Allele Identifier: CA3600727

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 259190
• ClinVar RCV Id: RCV000242491 ; RCV000535702 ; RCV000625252 ; RCV001154682 ; RCV001576573
• dbSNP Id: rs139482113
• ExAC: 5:179260201 G / A
• gnomAD v2: 5-179260201-G-A
• gnomAD v3: 5-179833201-G-A
• gnomAD v4: 5-179833201-G-A
• MyVariant Identifiers: chr5:g.179260201G>A (hg19) ; chr5:g.179833201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833201G>A , CM000667.2:g.179833201G>A	GRCh38
NC_000005.9:g.179260201G>A , CM000667.1:g.179260201G>A	GRCh37
NC_000005.8:g.179192807G>A	NCBI36
NG_011342.1:g.31814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.924G>A MANE Select	ENSP00000374455.4:p.Ala308=
ENST00000360718.5:c.672G>A	ENSP00000353944.5:p.Ala224=
ENST00000389805.8:c.924G>A	ENSP00000374455.4:p.Ala308=
ENST00000466342.1:n.623G>A
ENST00000510187.5:c.924G>A	ENSP00000424477.1:p.Ala308=
NM_001142298.1:c.672G>A	NP_001135770.1:p.Ala224=
NM_001142299.1:c.672G>A	NP_001135771.1:p.Ala224=
NM_003900.4:c.924G>A	NP_003891.1:p.Ala308=
XM_017010010.1:c.672G>A	XP_016865499.1:p.Ala224=
NM_003900.5:c.924G>A MANE Select	NP_003891.1:p.Ala308=
NM_001142298.2:c.672G>A	NP_001135770.1:p.Ala224=
NM_001142299.2:c.672G>A	NP_001135771.1:p.Ala224=