Canonical Allele Identifier: CA1080594
Community Standard Title: NM_000396.4(CTSK):c.22C>T (p.Leu8=)
Gene: CTSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150806784G>A , CM000663.2:g.150806784G>A GRCh38
NC_000001.10:g.150779260G>A , CM000663.1:g.150779260G>A GRCh37
NC_000001.9:g.149045884G>A NCBI36
NG_011848.1:g.6553C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000396.4:c.22C>T MANE Select NP_000387.1:p.Leu8=
ENST00000271651.8:c.22C>T MANE Select ENSP00000271651.3:p.Leu8=
NM_000396.3:c.22C>T NP_000387.1:p.Leu8=
ENST00000271651.7:c.22C>T ENSP00000271651.3:p.Leu8=
ENST00000443913.1:c.199C>T ENSP00000405083.1:p.Leu67=
ENST00000443913.2:c.199C>T ENSP00000405083.2:p.Leu67=
ENST00000480670.2:n.2630C>T
ENST00000676680.1:c.22C>T ENSP00000503270.1:p.Leu8=
ENST00000676716.1:c.22C>T ENSP00000504737.1:p.Leu8=
ENST00000676751.1:c.22C>T ENSP00000502964.1:p.Leu8=
ENST00000676824.1:c.22C>T ENSP00000504176.1:p.Leu8=
ENST00000676966.1:c.22C>T ENSP00000503723.1:p.Leu8=
ENST00000676970.1:c.22C>T ENSP00000503832.1:p.Leu8=
ENST00000677330.1:n.1387C>T
ENST00000677887.1:c.64C>T ENSP00000503876.1:p.Leu22=
ENST00000678275.1:c.22C>T ENSP00000504796.1:p.Leu8=
ENST00000678337.1:c.58C>T ENSP00000504759.1:p.Leu20=
ENST00000678725.1:n.999C>T
ENST00000679090.1:n.146C>T
ENST00000679148.1:n.902C>T
ENST00000679171.1:n.1922C>T
ENST00000679260.1:c.22C>T ENSP00000504534.1:p.Leu8=