Canonical Allele Identifier: CA342335720
Community Standard Title: NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150799182C>T , CM000663.2:g.150799182C>T GRCh38
NC_000001.10:g.150771658C>T , CM000663.1:g.150771658C>T GRCh37
NC_000001.9:g.149038282C>T NCBI36
NG_011848.1:g.14155G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.876G>A MANE Select NP_000387.1:p.Trp292Ter
ENST00000271651.8:c.876G>A MANE Select ENSP00000271651.3:p.Trp292Ter
NM_000396.3:c.876G>A NP_000387.1:p.Trp292Ter
ENST00000271651.7:c.876G>A ENSP00000271651.3:p.Trp292Ter
ENST00000443913.2:c.1053G>A ENSP00000405083.2:p.Trp351Ter
ENST00000480670.2:n.3945G>A
ENST00000676680.1:c.*170G>A ENSP00000503270.1:n.*170G>A
ENST00000676716.1:c.753G>A ENSP00000504737.1:p.Trp251Ter
ENST00000676751.1:c.784+362G>A ENSP00000502964.1:n.784+362G>A
ENST00000676824.1:c.876G>A ENSP00000504176.1:p.Trp292Ter
ENST00000676966.1:c.876G>A ENSP00000503723.1:p.Trp292Ter
ENST00000676970.1:c.888G>A ENSP00000503832.1:p.Trp296Ter
ENST00000677330.1:n.2702G>A
ENST00000677611.1:n.728G>A
ENST00000677887.1:c.918G>A ENSP00000503876.1:p.Trp306Ter
ENST00000678275.1:c.*768G>A ENSP00000504796.1:n.*768G>A
ENST00000678337.1:c.912G>A ENSP00000504759.1:p.Trp304Ter
ENST00000678725.1:n.2123G>A
ENST00000679090.1:n.1731G>A
ENST00000679148.1:n.3838G>A
ENST00000679171.1:n.3507G>A
ENST00000679178.1:n.587G>A
ENST00000679260.1:c.657G>A ENSP00000504534.1:p.Trp219Ter