Canonical Allele Identifier: CA342337239
Community Standard Title: NM_000396.4(CTSK):c.214G>T (p.Glu72Ter)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150806131C>A , CM000663.2:g.150806131C>A GRCh38
NC_000001.10:g.150778607C>A , CM000663.1:g.150778607C>A GRCh37
NC_000001.9:g.149045231C>A NCBI36
NG_011848.1:g.7206G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.214G>T MANE Select NP_000387.1:p.Glu72Ter
ENST00000271651.8:c.214G>T MANE Select ENSP00000271651.3:p.Glu72Ter
NM_000396.3:c.214G>T NP_000387.1:p.Glu72Ter
ENST00000271651.7:c.214G>T ENSP00000271651.3:p.Glu72Ter
ENST00000443913.1:c.391G>T ENSP00000405083.1:p.Glu131Ter
ENST00000443913.2:c.391G>T ENSP00000405083.2:p.Glu131Ter
ENST00000480670.1:n.84-115G>T
ENST00000480670.2:n.3283G>T
ENST00000676680.1:c.214G>T ENSP00000503270.1:p.Glu72Ter
ENST00000676716.1:c.121-115G>T ENSP00000504737.1:n.121-115G>T
ENST00000676751.1:c.214G>T ENSP00000502964.1:p.Glu72Ter
ENST00000676824.1:c.214G>T ENSP00000504176.1:p.Glu72Ter
ENST00000676966.1:c.214G>T ENSP00000503723.1:p.Glu72Ter
ENST00000676970.1:c.214G>T ENSP00000503832.1:p.Glu72Ter
ENST00000677330.1:n.2040G>T
ENST00000677887.1:c.256G>T ENSP00000503876.1:p.Glu86Ter
ENST00000678275.1:c.*106G>T ENSP00000504796.1:n.*106G>T
ENST00000678337.1:c.250G>T ENSP00000504759.1:p.Glu84Ter
ENST00000678725.1:n.1191G>T
ENST00000679090.1:n.799G>T
ENST00000679148.1:n.1555G>T
ENST00000679171.1:n.2575G>T
ENST00000679260.1:c.214G>T ENSP00000504534.1:p.Glu72Ter