Canonical Allele Identifier: CA342336768

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1726007
• ClinVar RCV Id: RCV002306978
• MyVariant Identifiers: chr1:g.150776698A>T (hg19) ; chr1:g.150804222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804222A>T , CM000663.2:g.150804222A>T	GRCh38
NC_000001.10:g.150776698A>T , CM000663.1:g.150776698A>T	GRCh37
NC_000001.9:g.149043322A>T	NCBI36
NG_011848.1:g.9115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.417T>A MANE Select	ENSP00000271651.3:p.Cys139Ter
ENST00000443913.2:c.594T>A	ENSP00000405083.2:p.Cys198Ter
ENST00000480670.2:n.3486T>A
ENST00000676680.1:c.417T>A	ENSP00000503270.1:p.Cys139Ter
ENST00000676716.1:c.294T>A	ENSP00000504737.1:p.Cys98Ter
ENST00000676751.1:c.417T>A	ENSP00000502964.1:p.Cys139Ter
ENST00000676824.1:c.417T>A	ENSP00000504176.1:p.Cys139Ter
ENST00000676966.1:c.417T>A	ENSP00000503723.1:p.Cys139Ter
ENST00000676970.1:c.417T>A	ENSP00000503832.1:p.Cys139Ter
ENST00000677330.1:n.2243T>A
ENST00000677611.1:n.269T>A
ENST00000677887.1:c.459T>A	ENSP00000503876.1:p.Cys153Ter
ENST00000678275.1:c.*309T>A	ENSP00000504796.1:n.*309T>A
ENST00000678337.1:c.453T>A	ENSP00000504759.1:p.Cys151Ter
ENST00000678725.1:n.1394T>A
ENST00000679090.1:n.1002T>A
ENST00000679148.1:n.3379T>A
ENST00000679171.1:n.2778T>A
ENST00000679260.1:c.399+1639T>A	ENSP00000504534.1:n.399+1639T>A
ENST00000271651.7:c.417T>A	ENSP00000271651.3:p.Cys139Ter
ENST00000443913.1:c.594T>A	ENSP00000405083.1:p.Cys198Ter
ENST00000480670.1:n.257T>A
NM_000396.3:c.417T>A	NP_000387.1:p.Cys139Ter
NM_000396.4:c.417T>A MANE Select	NP_000387.1:p.Cys139Ter