Canonical Allele Identifier: CA10605524

Gene: CTSK

Linked Data

• ClinVar Variation Id: 286620
• ClinVar RCV Id: RCV000442545 ; RCV002298565
• dbSNP Id: rs868112062
• gnomAD v4: 1-150804098-A-G
• MyVariant Identifiers: chr1:g.150776574A>G (hg19) ; chr1:g.150804098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804098A>G , CM000663.2:g.150804098A>G	GRCh38
NC_000001.10:g.150776574A>G , CM000663.1:g.150776574A>G	GRCh37
NC_000001.9:g.149043198A>G	NCBI36
NG_011848.1:g.9239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.541T>C MANE Select	ENSP00000271651.3:p.Tyr181His
ENST00000443913.2:c.718T>C	ENSP00000405083.2:p.Tyr240His
ENST00000480670.2:n.3610T>C
ENST00000676680.1:c.541T>C	ENSP00000503270.1:p.Tyr181His
ENST00000676716.1:c.418T>C	ENSP00000504737.1:p.Tyr140His
ENST00000676751.1:c.541T>C	ENSP00000502964.1:p.Tyr181His
ENST00000676824.1:c.541T>C	ENSP00000504176.1:p.Tyr181His
ENST00000676966.1:c.541T>C	ENSP00000503723.1:p.Tyr181His
ENST00000676970.1:c.541T>C	ENSP00000503832.1:p.Tyr181His
ENST00000677330.1:n.2367T>C
ENST00000677611.1:n.393T>C
ENST00000677887.1:c.583T>C	ENSP00000503876.1:p.Tyr195His
ENST00000678275.1:c.*433T>C	ENSP00000504796.1:n.*433T>C
ENST00000678337.1:c.577T>C	ENSP00000504759.1:p.Tyr193His
ENST00000678725.1:n.1518T>C
ENST00000679090.1:n.1126T>C
ENST00000679148.1:n.3503T>C
ENST00000679171.1:n.2902T>C
ENST00000679260.1:c.399+1763T>C	ENSP00000504534.1:n.399+1763T>C
ENST00000271651.7:c.541T>C	ENSP00000271651.3:p.Tyr181His
ENST00000443913.1:c.718T>C	ENSP00000405083.1:p.Tyr240His
ENST00000480670.1:n.381T>C
NM_000396.3:c.541T>C	NP_000387.1:p.Tyr181His
NM_000396.4:c.541T>C MANE Select	NP_000387.1:p.Tyr181His