Canonical Allele Identifier: CA342336479
Community Standard Title: NM_000396.4(CTSK):c.547A>C (p.Thr183Pro)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150804092T>G , CM000663.2:g.150804092T>G GRCh38
NC_000001.10:g.150776568T>G , CM000663.1:g.150776568T>G GRCh37
NC_000001.9:g.149043192T>G NCBI36
NG_011848.1:g.9245A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.547A>C MANE Select NP_000387.1:p.Thr183Pro
ENST00000271651.8:c.547A>C MANE Select ENSP00000271651.3:p.Thr183Pro
NM_000396.3:c.547A>C NP_000387.1:p.Thr183Pro
ENST00000271651.7:c.547A>C ENSP00000271651.3:p.Thr183Pro
ENST00000443913.1:c.724A>C ENSP00000405083.1:p.Thr242Pro
ENST00000443913.2:c.724A>C ENSP00000405083.2:p.Thr242Pro
ENST00000480670.1:n.387A>C
ENST00000480670.2:n.3616A>C
ENST00000676680.1:c.547A>C ENSP00000503270.1:p.Thr183Pro
ENST00000676716.1:c.424A>C ENSP00000504737.1:p.Thr142Pro
ENST00000676751.1:c.547A>C ENSP00000502964.1:p.Thr183Pro
ENST00000676824.1:c.547A>C ENSP00000504176.1:p.Thr183Pro
ENST00000676966.1:c.547A>C ENSP00000503723.1:p.Thr183Pro
ENST00000676970.1:c.547A>C ENSP00000503832.1:p.Thr183Pro
ENST00000677330.1:n.2373A>C
ENST00000677611.1:n.399A>C
ENST00000677887.1:c.589A>C ENSP00000503876.1:p.Thr197Pro
ENST00000678275.1:c.*439A>C ENSP00000504796.1:n.*439A>C
ENST00000678337.1:c.583A>C ENSP00000504759.1:p.Thr195Pro
ENST00000678725.1:n.1524A>C
ENST00000679090.1:n.1132A>C
ENST00000679148.1:n.3509A>C
ENST00000679171.1:n.2908A>C
ENST00000679260.1:c.399+1769A>C ENSP00000504534.1:n.399+1769A>C