Canonical Allele Identifier: CA3600920

Gene: SQSTM1 MRNIP

Linked Data

• ClinVar Variation Id: 353167
• ClinVar RCV Id: RCV000375696
• dbSNP Id: rs369609665
• ExAC: 5:179263653 C / T
• gnomAD v2: 5-179263653-C-T
• gnomAD v3: 5-179836653-C-T
• gnomAD v4: 5-179836653-C-T
• MyVariant Identifiers: chr5:g.179263653C>T (hg19) ; chr5:g.179836653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179836653C>T , CM000667.2:g.179836653C>T	GRCh38
NC_000005.9:g.179263653C>T , CM000667.1:g.179263653C>T	GRCh37
NC_000005.8:g.179196259C>T	NCBI36
NG_011342.1:g.35266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.*60C>T (SQSTM1) MANE Select	ENSP00000374455.4:n.*60C>T
ENST00000360718.5:c.*60C>T (SQSTM1)	ENSP00000353944.5:n.*60C>T
ENST00000389805.8:c.*60C>T (SQSTM1)	ENSP00000374455.4:n.*60C>T
ENST00000510187.5:c.1133C>T (SQSTM1)	ENSP00000424477.1:p.Ala378Val
ENST00000518235.5:c.*525G>A (MRNIP)	ENSP00000430298.1:n.*525G>A
ENST00000522663.5:c.*1037G>A (MRNIP)	ENSP00000429835.1:n.*1037G>A
NM_001142298.1:c.*60C>T (SQSTM1)	NP_001135770.1:n.*60C>T
NM_001142299.1:c.*60C>T (SQSTM1)	NP_001135771.1:n.*60C>T
NM_003900.4:c.*60C>T (SQSTM1)	NP_003891.1:n.*60C>T
XM_017010010.1:c.*60C>T (SQSTM1)	XP_016865499.1:n.*60C>T
NM_003900.5:c.*60C>T (SQSTM1) MANE Select	NP_003891.1:n.*60C>T
NM_001142298.2:c.*60C>T (SQSTM1)	NP_001135770.1:n.*60C>T
NM_001142299.2:c.*60C>T (SQSTM1)	NP_001135771.1:n.*60C>T