Canonical Allele Identifier: CA3600460

Gene: SQSTM1

Linked Data

• ClinVar Variation Id: 1587162
• ClinVar RCV Id: RCV002103066
• dbSNP Id: rs199527061
• ExAC: 5:179250853 T / C
• gnomAD v2: 5-179250853-T-C
• gnomAD v3: 5-179823853-T-C
• gnomAD v4: 5-179823853-T-C
• MyVariant Identifiers: chr5:g.179250853T>C (hg19) ; chr5:g.179823853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823853T>C , CM000667.2:g.179823853T>C	GRCh38
NC_000005.9:g.179250853T>C , CM000667.1:g.179250853T>C	GRCh37
NC_000005.8:g.179183459T>C	NCBI36
NG_011342.1:g.22466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.302-5T>C MANE Select	ENSP00000374455.4:n.302-5T>C
ENST00000360718.5:c.50-5T>C	ENSP00000353944.5:n.50-5T>C
ENST00000389805.8:c.302-5T>C	ENSP00000374455.4:n.302-5T>C
ENST00000422245.5:c.50-5T>C	ENSP00000394534.1:n.50-5T>C
ENST00000453046.5:c.*237-5T>C	ENSP00000405061.1:n.*237-5T>C
ENST00000464493.5:n.197-5T>C
ENST00000481335.5:n.452-5T>C
ENST00000485412.1:n.289T>C
ENST00000504627.1:c.371-5T>C	ENSP00000425957.1:n.371-5T>C
ENST00000508284.5:c.*24-5T>C	ENSP00000424195.1:n.*24-5T>C
ENST00000510187.5:c.302-5T>C	ENSP00000424477.1:n.302-5T>C
ENST00000514093.5:c.50-5T>C	ENSP00000427308.1:n.50-5T>C
NM_001142298.1:c.50-5T>C	NP_001135770.1:n.50-5T>C
NM_001142299.1:c.50-5T>C	NP_001135771.1:n.50-5T>C
NM_003900.4:c.302-5T>C	NP_003891.1:n.302-5T>C
XM_017010010.1:c.50-5T>C	XP_016865499.1:n.50-5T>C
NM_003900.5:c.302-5T>C MANE Select	NP_003891.1:n.302-5T>C
NM_001142298.2:c.50-5T>C	NP_001135770.1:n.50-5T>C
NM_001142299.2:c.50-5T>C	NP_001135771.1:n.50-5T>C