Canonical Allele Identifier: CA1080385
Community Standard Title: NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150796836C>T , CM000663.2:g.150796836C>T GRCh38
NC_000001.10:g.150769312C>T , CM000663.1:g.150769312C>T GRCh37
NC_000001.9:g.149035936C>T NCBI36
NG_011848.1:g.16501G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.953G>A MANE Select NP_000387.1:p.Cys318Tyr
ENST00000271651.8:c.953G>A MANE Select ENSP00000271651.3:p.Cys318Tyr
NM_000396.3:c.953G>A NP_000387.1:p.Cys318Tyr
ENST00000271651.7:c.953G>A ENSP00000271651.3:p.Cys318Tyr
ENST00000443913.2:c.1130G>A ENSP00000405083.2:p.Cys377Tyr
ENST00000480670.2:n.4022G>A
ENST00000676680.1:c.*247G>A ENSP00000503270.1:n.*247G>A
ENST00000676716.1:c.830G>A ENSP00000504737.1:p.Cys277Tyr
ENST00000676751.1:c.847G>A ENSP00000502964.1:p.Val283Met
ENST00000676824.1:c.953G>A ENSP00000504176.1:p.Cys318Tyr
ENST00000676966.1:c.953G>A ENSP00000503723.1:p.Cys318Tyr
ENST00000676970.1:c.965G>A ENSP00000503832.1:p.Cys322Tyr
ENST00000677330.1:n.2779G>A
ENST00000677611.1:n.805G>A
ENST00000677887.1:c.995G>A ENSP00000503876.1:p.Cys332Tyr
ENST00000678275.1:c.*845G>A ENSP00000504796.1:n.*845G>A
ENST00000678337.1:c.989G>A ENSP00000504759.1:p.Cys330Tyr
ENST00000678725.1:n.2200G>A
ENST00000679090.1:n.1808G>A
ENST00000679148.1:n.3915G>A
ENST00000679171.1:n.3584G>A
ENST00000679178.1:n.664G>A
ENST00000679260.1:c.734G>A ENSP00000504534.1:p.Cys245Tyr