Canonical Allele Identifier: CA119608

Gene: CTSK

Linked Data

• ClinVar Variation Id: 8421
• ClinVar RCV Id: RCV000008932 ; RCV000623420 ; RCV001206530
• dbSNP Id: rs74315302
• gnomAD v2: 1-150776679-C-G
• gnomAD v3: 1-150804203-C-G
• gnomAD v4: 1-150804203-C-G
• MyVariant Identifiers: chr1:g.150776679C>G (hg19) ; chr1:g.150804203C>G (hg38)
• PubMed: PMID:1350885 ; PMID:8328823 ; PMID:8703060 ; PMID:9529353 ; PMID:21569238 ; PMID:24269275 ; PMID:27558267

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804203C>G , CM000663.2:g.150804203C>G	GRCh38
NC_000001.10:g.150776679C>G , CM000663.1:g.150776679C>G	GRCh37
NC_000001.9:g.149043303C>G	NCBI36
NG_011848.1:g.9134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.436G>C MANE Select	ENSP00000271651.3:p.Gly146Arg
ENST00000443913.2:c.613G>C	ENSP00000405083.2:p.Gly205Arg
ENST00000480670.2:n.3505G>C
ENST00000676680.1:c.436G>C	ENSP00000503270.1:p.Gly146Arg
ENST00000676716.1:c.313G>C	ENSP00000504737.1:p.Gly105Arg
ENST00000676751.1:c.436G>C	ENSP00000502964.1:p.Gly146Arg
ENST00000676824.1:c.436G>C	ENSP00000504176.1:p.Gly146Arg
ENST00000676966.1:c.436G>C	ENSP00000503723.1:p.Gly146Arg
ENST00000676970.1:c.436G>C	ENSP00000503832.1:p.Gly146Arg
ENST00000677330.1:n.2262G>C
ENST00000677611.1:n.288G>C
ENST00000677887.1:c.478G>C	ENSP00000503876.1:p.Gly160Arg
ENST00000678275.1:c.*328G>C	ENSP00000504796.1:n.*328G>C
ENST00000678337.1:c.472G>C	ENSP00000504759.1:p.Gly158Arg
ENST00000678725.1:n.1413G>C
ENST00000679090.1:n.1021G>C
ENST00000679148.1:n.3398G>C
ENST00000679171.1:n.2797G>C
ENST00000679260.1:c.399+1658G>C	ENSP00000504534.1:n.399+1658G>C
ENST00000271651.7:c.436G>C	ENSP00000271651.3:p.Gly146Arg
ENST00000443913.1:c.613G>C	ENSP00000405083.1:p.Gly205Arg
ENST00000480670.1:n.276G>C
NM_000396.3:c.436G>C	NP_000387.1:p.Gly146Arg
NM_000396.4:c.436G>C MANE Select	NP_000387.1:p.Gly146Arg