Canonical Allele Identifier: CA1080488

Gene: CTSK

Linked Data

• ClinVar Variation Id: 522671
• ClinVar RCV Id: RCV000625814 ; RCV002499016 ; RCV002533146
• dbSNP Id: rs781168584
• ExAC: 1:150776537 C / T
• gnomAD v2: 1-150776537-C-T
• gnomAD v3: 1-150804061-C-T
• gnomAD v4: 1-150804061-C-T
• MyVariant Identifiers: chr1:g.150776537C>T (hg19) ; chr1:g.150804061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804061C>T , CM000663.2:g.150804061C>T	GRCh38
NC_000001.10:g.150776537C>T , CM000663.1:g.150776537C>T	GRCh37
NC_000001.9:g.149043161C>T	NCBI36
NG_011848.1:g.9276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.578G>A MANE Select	ENSP00000271651.3:p.Arg193Gln
ENST00000443913.2:c.755G>A	ENSP00000405083.2:p.Arg252Gln
ENST00000480670.2:n.3647G>A
ENST00000676680.1:c.578G>A	ENSP00000503270.1:p.Arg193Gln
ENST00000676716.1:c.455G>A	ENSP00000504737.1:p.Arg152Gln
ENST00000676751.1:c.578G>A	ENSP00000502964.1:p.Arg193Gln
ENST00000676824.1:c.578G>A	ENSP00000504176.1:p.Arg193Gln
ENST00000676966.1:c.578G>A	ENSP00000503723.1:p.Arg193Gln
ENST00000676970.1:c.578G>A	ENSP00000503832.1:p.Arg193Gln
ENST00000677330.1:n.2404G>A
ENST00000677611.1:n.430G>A
ENST00000677887.1:c.620G>A	ENSP00000503876.1:p.Arg207Gln
ENST00000678275.1:c.*470G>A	ENSP00000504796.1:n.*470G>A
ENST00000678337.1:c.614G>A	ENSP00000504759.1:p.Arg205Gln
ENST00000678725.1:n.1555G>A
ENST00000679090.1:n.1163G>A
ENST00000679148.1:n.3540G>A
ENST00000679171.1:n.2939G>A
ENST00000679260.1:c.399+1800G>A	ENSP00000504534.1:n.399+1800G>A
ENST00000271651.7:c.578G>A	ENSP00000271651.3:p.Arg193Gln
ENST00000443913.1:c.755G>A	ENSP00000405083.1:p.Arg252Gln
ENST00000480670.1:n.418G>A
NM_000396.3:c.578G>A	NP_000387.1:p.Arg193Gln
NM_000396.4:c.578G>A MANE Select	NP_000387.1:p.Arg193Gln