Canonical Allele Identifier: CA342336380

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776523C>G (hg19) ; chr1:g.150804047C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804047C>G , CM000663.2:g.150804047C>G	GRCh38
NC_000001.10:g.150776523C>G , CM000663.1:g.150776523C>G	GRCh37
NC_000001.9:g.149043147C>G	NCBI36
NG_011848.1:g.9290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.592G>C MANE Select	ENSP00000271651.3:p.Glu198Gln
ENST00000443913.2:c.769G>C	ENSP00000405083.2:p.Glu257Gln
ENST00000480670.2:n.3661G>C
ENST00000676680.1:c.592G>C	ENSP00000503270.1:p.Glu198Gln
ENST00000676716.1:c.469G>C	ENSP00000504737.1:p.Glu157Gln
ENST00000676751.1:c.592G>C	ENSP00000502964.1:p.Glu198Gln
ENST00000676824.1:c.592G>C	ENSP00000504176.1:p.Glu198Gln
ENST00000676966.1:c.592G>C	ENSP00000503723.1:p.Glu198Gln
ENST00000676970.1:c.592G>C	ENSP00000503832.1:p.Glu198Gln
ENST00000677330.1:n.2418G>C
ENST00000677611.1:n.444G>C
ENST00000677887.1:c.634G>C	ENSP00000503876.1:p.Glu212Gln
ENST00000678275.1:c.*484G>C	ENSP00000504796.1:n.*484G>C
ENST00000678337.1:c.628G>C	ENSP00000504759.1:p.Glu210Gln
ENST00000678725.1:n.1569G>C
ENST00000679090.1:n.1177G>C
ENST00000679148.1:n.3554G>C
ENST00000679171.1:n.2953G>C
ENST00000679260.1:c.399+1814G>C	ENSP00000504534.1:n.399+1814G>C
ENST00000271651.7:c.592G>C	ENSP00000271651.3:p.Glu198Gln
ENST00000443913.1:c.769G>C	ENSP00000405083.1:p.Glu257Gln
ENST00000480670.1:n.432G>C
NM_000396.3:c.592G>C	NP_000387.1:p.Glu198Gln
NM_000396.4:c.592G>C MANE Select	NP_000387.1:p.Glu198Gln