Canonical Allele Identifier: CA1080567
Community Standard Title: NM_000396.4(CTSK):c.137G>A (p.Arg46Gln)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150806208C>T , CM000663.2:g.150806208C>T GRCh38
NC_000001.10:g.150778684C>T , CM000663.1:g.150778684C>T GRCh37
NC_000001.9:g.149045308C>T NCBI36
NG_011848.1:g.7129G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.137G>A MANE Select NP_000387.1:p.Arg46Gln
ENST00000271651.8:c.137G>A MANE Select ENSP00000271651.3:p.Arg46Gln
NM_000396.3:c.137G>A NP_000387.1:p.Arg46Gln
ENST00000271651.7:c.137G>A ENSP00000271651.3:p.Arg46Gln
ENST00000443913.1:c.314G>A ENSP00000405083.1:p.Arg105Gln
ENST00000443913.2:c.314G>A ENSP00000405083.2:p.Arg105Gln
ENST00000480670.1:n.84-192G>A
ENST00000480670.2:n.3206G>A
ENST00000676680.1:c.137G>A ENSP00000503270.1:p.Arg46Gln
ENST00000676716.1:c.121-192G>A ENSP00000504737.1:n.121-192G>A
ENST00000676751.1:c.137G>A ENSP00000502964.1:p.Arg46Gln
ENST00000676824.1:c.137G>A ENSP00000504176.1:p.Arg46Gln
ENST00000676966.1:c.137G>A ENSP00000503723.1:p.Arg46Gln
ENST00000676970.1:c.137G>A ENSP00000503832.1:p.Arg46Gln
ENST00000677330.1:n.1963G>A
ENST00000677887.1:c.179G>A ENSP00000503876.1:p.Arg60Gln
ENST00000678275.1:c.*29G>A ENSP00000504796.1:n.*29G>A
ENST00000678337.1:c.173G>A ENSP00000504759.1:p.Arg58Gln
ENST00000678725.1:n.1114G>A
ENST00000679090.1:n.722G>A
ENST00000679148.1:n.1478G>A
ENST00000679171.1:n.2498G>A
ENST00000679260.1:c.137G>A ENSP00000504534.1:p.Arg46Gln