Canonical Allele Identifier: CA342336826
Community Standard Title: NM_000396.4(CTSK):c.397C>T (p.Gln133Ter)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150805863G>A , CM000663.2:g.150805863G>A GRCh38
NC_000001.10:g.150778339G>A , CM000663.1:g.150778339G>A GRCh37
NC_000001.9:g.149044963G>A NCBI36
NG_011848.1:g.7474C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.397C>T MANE Select NP_000387.1:p.Gln133Ter
ENST00000271651.8:c.397C>T MANE Select ENSP00000271651.3:p.Gln133Ter
NM_000396.3:c.397C>T NP_000387.1:p.Gln133Ter
ENST00000271651.7:c.397C>T ENSP00000271651.3:p.Gln133Ter
ENST00000443913.1:c.574C>T ENSP00000405083.1:p.Gln192Ter
ENST00000443913.2:c.574C>T ENSP00000405083.2:p.Gln192Ter
ENST00000480670.1:n.237C>T
ENST00000480670.2:n.3466C>T
ENST00000676680.1:c.397C>T ENSP00000503270.1:p.Gln133Ter
ENST00000676716.1:c.274C>T ENSP00000504737.1:p.Gln92Ter
ENST00000676751.1:c.397C>T ENSP00000502964.1:p.Gln133Ter
ENST00000676824.1:c.397C>T ENSP00000504176.1:p.Gln133Ter
ENST00000676966.1:c.397C>T ENSP00000503723.1:p.Gln133Ter
ENST00000676970.1:c.397C>T ENSP00000503832.1:p.Gln133Ter
ENST00000677330.1:n.2223C>T
ENST00000677611.1:n.249C>T
ENST00000677887.1:c.439C>T ENSP00000503876.1:p.Gln147Ter
ENST00000678275.1:c.*289C>T ENSP00000504796.1:n.*289C>T
ENST00000678337.1:c.433C>T ENSP00000504759.1:p.Gln145Ter
ENST00000678725.1:n.1374C>T
ENST00000679090.1:n.982C>T
ENST00000679148.1:n.1738C>T
ENST00000679171.1:n.2758C>T
ENST00000679260.1:c.397C>T ENSP00000504534.1:p.Gln133Ter