Canonical Allele Identifier: CA342336461
Community Standard Title: NM_000396.4(CTSK):c.556T>C (p.Phe186Leu)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150804083A>G , CM000663.2:g.150804083A>G GRCh38
NC_000001.10:g.150776559A>G , CM000663.1:g.150776559A>G GRCh37
NC_000001.9:g.149043183A>G NCBI36
NG_011848.1:g.9254T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.556T>C MANE Select NP_000387.1:p.Phe186Leu
ENST00000271651.8:c.556T>C MANE Select ENSP00000271651.3:p.Phe186Leu
NM_000396.3:c.556T>C NP_000387.1:p.Phe186Leu
ENST00000271651.7:c.556T>C ENSP00000271651.3:p.Phe186Leu
ENST00000443913.1:c.733T>C ENSP00000405083.1:p.Phe245Leu
ENST00000443913.2:c.733T>C ENSP00000405083.2:p.Phe245Leu
ENST00000480670.1:n.396T>C
ENST00000480670.2:n.3625T>C
ENST00000676680.1:c.556T>C ENSP00000503270.1:p.Phe186Leu
ENST00000676716.1:c.433T>C ENSP00000504737.1:p.Phe145Leu
ENST00000676751.1:c.556T>C ENSP00000502964.1:p.Phe186Leu
ENST00000676824.1:c.556T>C ENSP00000504176.1:p.Phe186Leu
ENST00000676966.1:c.556T>C ENSP00000503723.1:p.Phe186Leu
ENST00000676970.1:c.556T>C ENSP00000503832.1:p.Phe186Leu
ENST00000677330.1:n.2382T>C
ENST00000677611.1:n.408T>C
ENST00000677887.1:c.598T>C ENSP00000503876.1:p.Phe200Leu
ENST00000678275.1:c.*448T>C ENSP00000504796.1:n.*448T>C
ENST00000678337.1:c.592T>C ENSP00000504759.1:p.Phe198Leu
ENST00000678725.1:n.1533T>C
ENST00000679090.1:n.1141T>C
ENST00000679148.1:n.3518T>C
ENST00000679171.1:n.2917T>C
ENST00000679260.1:c.399+1778T>C ENSP00000504534.1:n.399+1778T>C