Canonical Allele Identifier: CA342336375

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776521T>G (hg19) ; chr1:g.150804045T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804045T>G , CM000663.2:g.150804045T>G	GRCh38
NC_000001.10:g.150776521T>G , CM000663.1:g.150776521T>G	GRCh37
NC_000001.9:g.149043145T>G	NCBI36
NG_011848.1:g.9292A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.594A>C MANE Select	ENSP00000271651.3:p.Glu198Asp
ENST00000443913.2:c.771A>C	ENSP00000405083.2:p.Glu257Asp
ENST00000480670.2:n.3663A>C
ENST00000676680.1:c.594A>C	ENSP00000503270.1:p.Glu198Asp
ENST00000676716.1:c.471A>C	ENSP00000504737.1:p.Glu157Asp
ENST00000676751.1:c.594A>C	ENSP00000502964.1:p.Glu198Asp
ENST00000676824.1:c.594A>C	ENSP00000504176.1:p.Glu198Asp
ENST00000676966.1:c.594A>C	ENSP00000503723.1:p.Glu198Asp
ENST00000676970.1:c.594A>C	ENSP00000503832.1:p.Glu198Asp
ENST00000677330.1:n.2420A>C
ENST00000677611.1:n.446A>C
ENST00000677887.1:c.636A>C	ENSP00000503876.1:p.Glu212Asp
ENST00000678275.1:c.*486A>C	ENSP00000504796.1:n.*486A>C
ENST00000678337.1:c.630A>C	ENSP00000504759.1:p.Glu210Asp
ENST00000678725.1:n.1571A>C
ENST00000679090.1:n.1179A>C
ENST00000679148.1:n.3556A>C
ENST00000679171.1:n.2955A>C
ENST00000679260.1:c.399+1816A>C	ENSP00000504534.1:n.399+1816A>C
ENST00000271651.7:c.594A>C	ENSP00000271651.3:p.Glu198Asp
ENST00000443913.1:c.771A>C	ENSP00000405083.1:p.Glu257Asp
ENST00000480670.1:n.434A>C
NM_000396.3:c.594A>C	NP_000387.1:p.Glu198Asp
NM_000396.4:c.594A>C MANE Select	NP_000387.1:p.Glu198Asp