Canonical Allele Identifier: CA420699390
Gene: CTSK HGNC NCBI

Linked Data

dbSNP Id: rs2101951450
MyVariant Identifiers: chr1:g.150776536C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150804060C>G , CM000663.2:g.150804060C>G GRCh38
NC_000001.10:g.150776536C>G , CM000663.1:g.150776536C>G GRCh37
NC_000001.9:g.149043160C>G NCBI36
NG_011848.1:g.9277G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271651.8:c.579G>C MANE Select ENSP00000271651.3:p.Arg193=
ENST00000443913.2:c.756G>C ENSP00000405083.2:p.Arg252=
ENST00000480670.2:n.3648G>C
ENST00000676680.1:c.579G>C ENSP00000503270.1:p.Arg193=
ENST00000676716.1:c.456G>C ENSP00000504737.1:p.Arg152=
ENST00000676751.1:c.579G>C ENSP00000502964.1:p.Arg193=
ENST00000676824.1:c.579G>C ENSP00000504176.1:p.Arg193=
ENST00000676966.1:c.579G>C ENSP00000503723.1:p.Arg193=
ENST00000676970.1:c.579G>C ENSP00000503832.1:p.Arg193=
ENST00000677330.1:n.2405G>C
ENST00000677611.1:n.431G>C
ENST00000677887.1:c.621G>C ENSP00000503876.1:p.Arg207=
ENST00000678275.1:c.*471G>C ENSP00000504796.1:n.*471G>C
ENST00000678337.1:c.615G>C ENSP00000504759.1:p.Arg205=
ENST00000678725.1:n.1556G>C
ENST00000679090.1:n.1164G>C
ENST00000679148.1:n.3541G>C
ENST00000679171.1:n.2940G>C
ENST00000679260.1:c.399+1801G>C ENSP00000504534.1:n.399+1801G>C
ENST00000271651.7:c.579G>C ENSP00000271651.3:p.Arg193=
ENST00000443913.1:c.756G>C ENSP00000405083.1:p.Arg252=
ENST00000480670.1:n.419G>C
NM_000396.3:c.579G>C NP_000387.1:p.Arg193=
NM_000396.4:c.579G>C MANE Select NP_000387.1:p.Arg193=