Canonical Allele Identifier: CA1080418
Gene: CTSK HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150799244C>T , CM000663.2:g.150799244C>T GRCh38
NC_000001.10:g.150771720C>T , CM000663.1:g.150771720C>T GRCh37
NC_000001.9:g.149038344C>T NCBI36
NG_011848.1:g.14093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271651.8:c.814G>A MANE Select ENSP00000271651.3:p.Asp272Asn
ENST00000443913.2:c.991G>A ENSP00000405083.2:p.Asp331Asn
ENST00000480670.2:n.3883G>A
ENST00000676680.1:c.*108G>A ENSP00000503270.1:n.*108G>A
ENST00000676716.1:c.691G>A ENSP00000504737.1:p.Asp231Asn
ENST00000676751.1:c.784+300G>A ENSP00000502964.1:n.784+300G>A
ENST00000676824.1:c.814G>A ENSP00000504176.1:p.Asp272Asn
ENST00000676966.1:c.814G>A ENSP00000503723.1:p.Asp272Asn
ENST00000676970.1:c.826G>A ENSP00000503832.1:p.Asp276Asn
ENST00000677330.1:n.2640G>A
ENST00000677611.1:n.666G>A
ENST00000677887.1:c.856G>A ENSP00000503876.1:p.Asp286Asn
ENST00000678275.1:c.*706G>A ENSP00000504796.1:n.*706G>A
ENST00000678337.1:c.850G>A ENSP00000504759.1:p.Asp284Asn
ENST00000678725.1:n.2061G>A
ENST00000679090.1:n.1669G>A
ENST00000679148.1:n.3776G>A
ENST00000679171.1:n.3445G>A
ENST00000679178.1:n.525G>A
ENST00000679260.1:c.595G>A ENSP00000504534.1:p.Asp199Asn
ENST00000271651.7:c.814G>A ENSP00000271651.3:p.Asp272Asn
NM_000396.3:c.814G>A NP_000387.1:p.Asp272Asn
NM_000396.4:c.814G>A MANE Select NP_000387.1:p.Asp272Asn