Canonical Allele Identifier: CA342336422

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776543T>C (hg19) ; chr1:g.150804067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804067T>C , CM000663.2:g.150804067T>C	GRCh38
NC_000001.10:g.150776543T>C , CM000663.1:g.150776543T>C	GRCh37
NC_000001.9:g.149043167T>C	NCBI36
NG_011848.1:g.9270A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.572A>G MANE Select	ENSP00000271651.3:p.Lys191Arg
ENST00000443913.2:c.749A>G	ENSP00000405083.2:p.Lys250Arg
ENST00000480670.2:n.3641A>G
ENST00000676680.1:c.572A>G	ENSP00000503270.1:p.Lys191Arg
ENST00000676716.1:c.449A>G	ENSP00000504737.1:p.Lys150Arg
ENST00000676751.1:c.572A>G	ENSP00000502964.1:p.Lys191Arg
ENST00000676824.1:c.572A>G	ENSP00000504176.1:p.Lys191Arg
ENST00000676966.1:c.572A>G	ENSP00000503723.1:p.Lys191Arg
ENST00000676970.1:c.572A>G	ENSP00000503832.1:p.Lys191Arg
ENST00000677330.1:n.2398A>G
ENST00000677611.1:n.424A>G
ENST00000677887.1:c.614A>G	ENSP00000503876.1:p.Lys205Arg
ENST00000678275.1:c.*464A>G	ENSP00000504796.1:n.*464A>G
ENST00000678337.1:c.608A>G	ENSP00000504759.1:p.Lys203Arg
ENST00000678725.1:n.1549A>G
ENST00000679090.1:n.1157A>G
ENST00000679148.1:n.3534A>G
ENST00000679171.1:n.2933A>G
ENST00000679260.1:c.399+1794A>G	ENSP00000504534.1:n.399+1794A>G
ENST00000271651.7:c.572A>G	ENSP00000271651.3:p.Lys191Arg
ENST00000443913.1:c.749A>G	ENSP00000405083.1:p.Lys250Arg
ENST00000480670.1:n.412A>G
NM_000396.3:c.572A>G	NP_000387.1:p.Lys191Arg
NM_000396.4:c.572A>G MANE Select	NP_000387.1:p.Lys191Arg