Canonical Allele Identifier: CA1080510

Gene: CTSK

Linked Data

• dbSNP Id: rs777898190
• ExAC: 1:150776703 A / T
• gnomAD v2: 1-150776703-A-T
• gnomAD v4: 1-150804227-A-T
• MyVariant Identifiers: chr1:g.150776703A>T (hg19) ; chr1:g.150804227A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804227A>T , CM000663.2:g.150804227A>T	GRCh38
NC_000001.10:g.150776703A>T , CM000663.1:g.150776703A>T	GRCh37
NC_000001.9:g.149043327A>T	NCBI36
NG_011848.1:g.9110T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.412T>A MANE Select	ENSP00000271651.3:p.Ser138Thr
ENST00000443913.2:c.589T>A	ENSP00000405083.2:p.Ser197Thr
ENST00000480670.2:n.3481T>A
ENST00000676680.1:c.412T>A	ENSP00000503270.1:p.Ser138Thr
ENST00000676716.1:c.289T>A	ENSP00000504737.1:p.Ser97Thr
ENST00000676751.1:c.412T>A	ENSP00000502964.1:p.Ser138Thr
ENST00000676824.1:c.412T>A	ENSP00000504176.1:p.Ser138Thr
ENST00000676966.1:c.412T>A	ENSP00000503723.1:p.Ser138Thr
ENST00000676970.1:c.412T>A	ENSP00000503832.1:p.Ser138Thr
ENST00000677330.1:n.2238T>A
ENST00000677611.1:n.264T>A
ENST00000677887.1:c.454T>A	ENSP00000503876.1:p.Ser152Thr
ENST00000678275.1:c.*304T>A	ENSP00000504796.1:n.*304T>A
ENST00000678337.1:c.448T>A	ENSP00000504759.1:p.Ser150Thr
ENST00000678725.1:n.1389T>A
ENST00000679090.1:n.997T>A
ENST00000679148.1:n.3374T>A
ENST00000679171.1:n.2773T>A
ENST00000679260.1:c.399+1634T>A	ENSP00000504534.1:n.399+1634T>A
ENST00000271651.7:c.412T>A	ENSP00000271651.3:p.Ser138Thr
ENST00000443913.1:c.589T>A	ENSP00000405083.1:p.Ser197Thr
ENST00000480670.1:n.252T>A
NM_000396.3:c.412T>A	NP_000387.1:p.Ser138Thr
NM_000396.4:c.412T>A MANE Select	NP_000387.1:p.Ser138Thr