Canonical Allele Identifier: CA342336511

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776584A>C (hg19) ; chr1:g.150804108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804108A>C , CM000663.2:g.150804108A>C	GRCh38
NC_000001.10:g.150776584A>C , CM000663.1:g.150776584A>C	GRCh37
NC_000001.9:g.149043208A>C	NCBI36
NG_011848.1:g.9229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.531T>G MANE Select	ENSP00000271651.3:p.Cys177Trp
ENST00000443913.2:c.708T>G	ENSP00000405083.2:p.Cys236Trp
ENST00000480670.2:n.3600T>G
ENST00000676680.1:c.531T>G	ENSP00000503270.1:p.Cys177Trp
ENST00000676716.1:c.408T>G	ENSP00000504737.1:p.Cys136Trp
ENST00000676751.1:c.531T>G	ENSP00000502964.1:p.Cys177Trp
ENST00000676824.1:c.531T>G	ENSP00000504176.1:p.Cys177Trp
ENST00000676966.1:c.531T>G	ENSP00000503723.1:p.Cys177Trp
ENST00000676970.1:c.531T>G	ENSP00000503832.1:p.Cys177Trp
ENST00000677330.1:n.2357T>G
ENST00000677611.1:n.383T>G
ENST00000677887.1:c.573T>G	ENSP00000503876.1:p.Cys191Trp
ENST00000678275.1:c.*423T>G	ENSP00000504796.1:n.*423T>G
ENST00000678337.1:c.567T>G	ENSP00000504759.1:p.Cys189Trp
ENST00000678725.1:n.1508T>G
ENST00000679090.1:n.1116T>G
ENST00000679148.1:n.3493T>G
ENST00000679171.1:n.2892T>G
ENST00000679260.1:c.399+1753T>G	ENSP00000504534.1:n.399+1753T>G
ENST00000271651.7:c.531T>G	ENSP00000271651.3:p.Cys177Trp
ENST00000443913.1:c.708T>G	ENSP00000405083.1:p.Cys236Trp
ENST00000480670.1:n.371T>G
NM_000396.3:c.531T>G	NP_000387.1:p.Cys177Trp
NM_000396.4:c.531T>G MANE Select	NP_000387.1:p.Cys177Trp