Canonical Allele Identifier: CA30097894

Gene: CTSK

Linked Data

• dbSNP Id: rs200313416
• MyVariant Identifiers: chr1:g.150776707A>C (hg19) ; chr1:g.150804231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804231A>C , CM000663.2:g.150804231A>C	GRCh38
NC_000001.10:g.150776707A>C , CM000663.1:g.150776707A>C	GRCh37
NC_000001.9:g.149043331A>C	NCBI36
NG_011848.1:g.9106T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.408T>G MANE Select	ENSP00000271651.3:p.Cys136Trp
ENST00000443913.2:c.585T>G	ENSP00000405083.2:p.Cys195Trp
ENST00000480670.2:n.3477T>G
ENST00000676680.1:c.408T>G	ENSP00000503270.1:p.Cys136Trp
ENST00000676716.1:c.285T>G	ENSP00000504737.1:p.Cys95Trp
ENST00000676751.1:c.408T>G	ENSP00000502964.1:p.Cys136Trp
ENST00000676824.1:c.408T>G	ENSP00000504176.1:p.Cys136Trp
ENST00000676966.1:c.408T>G	ENSP00000503723.1:p.Cys136Trp
ENST00000676970.1:c.408T>G	ENSP00000503832.1:p.Cys136Trp
ENST00000677330.1:n.2234T>G
ENST00000677611.1:n.260T>G
ENST00000677887.1:c.450T>G	ENSP00000503876.1:p.Cys150Trp
ENST00000678275.1:c.*300T>G	ENSP00000504796.1:n.*300T>G
ENST00000678337.1:c.444T>G	ENSP00000504759.1:p.Cys148Trp
ENST00000678725.1:n.1385T>G
ENST00000679090.1:n.993T>G
ENST00000679148.1:n.3370T>G
ENST00000679171.1:n.2769T>G
ENST00000679260.1:c.399+1630T>G	ENSP00000504534.1:n.399+1630T>G
ENST00000271651.7:c.408T>G	ENSP00000271651.3:p.Cys136Trp
ENST00000443913.1:c.585T>G	ENSP00000405083.1:p.Cys195Trp
ENST00000480670.1:n.248T>G
NM_000396.3:c.408T>G	NP_000387.1:p.Cys136Trp
NM_000396.4:c.408T>G MANE Select	NP_000387.1:p.Cys136Trp