Canonical Allele Identifier: CA342336633

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776639A>C (hg19) ; chr1:g.150804163A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804163A>C , CM000663.2:g.150804163A>C	GRCh38
NC_000001.10:g.150776639A>C , CM000663.1:g.150776639A>C	GRCh37
NC_000001.9:g.149043263A>C	NCBI36
NG_011848.1:g.9174T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.476T>G MANE Select	ENSP00000271651.3:p.Leu159Arg
ENST00000443913.2:c.653T>G	ENSP00000405083.2:p.Leu218Arg
ENST00000480670.2:n.3545T>G
ENST00000676680.1:c.476T>G	ENSP00000503270.1:p.Leu159Arg
ENST00000676716.1:c.353T>G	ENSP00000504737.1:p.Leu118Arg
ENST00000676751.1:c.476T>G	ENSP00000502964.1:p.Leu159Arg
ENST00000676824.1:c.476T>G	ENSP00000504176.1:p.Leu159Arg
ENST00000676966.1:c.476T>G	ENSP00000503723.1:p.Leu159Arg
ENST00000676970.1:c.476T>G	ENSP00000503832.1:p.Leu159Arg
ENST00000677330.1:n.2302T>G
ENST00000677611.1:n.328T>G
ENST00000677887.1:c.518T>G	ENSP00000503876.1:p.Leu173Arg
ENST00000678275.1:c.*368T>G	ENSP00000504796.1:n.*368T>G
ENST00000678337.1:c.512T>G	ENSP00000504759.1:p.Leu171Arg
ENST00000678725.1:n.1453T>G
ENST00000679090.1:n.1061T>G
ENST00000679148.1:n.3438T>G
ENST00000679171.1:n.2837T>G
ENST00000679260.1:c.399+1698T>G	ENSP00000504534.1:n.399+1698T>G
ENST00000271651.7:c.476T>G	ENSP00000271651.3:p.Leu159Arg
ENST00000443913.1:c.653T>G	ENSP00000405083.1:p.Leu218Arg
ENST00000480670.1:n.316T>G
NM_000396.3:c.476T>G	NP_000387.1:p.Leu159Arg
NM_000396.4:c.476T>G MANE Select	NP_000387.1:p.Leu159Arg