Canonical Allele Identifier: CA16040663

Gene: CTSK

Linked Data

• ClinVar Variation Id: 371412
• ClinVar RCV Id: RCV000409305 ; RCV003558364
• dbSNP Id: rs1057517252
• gnomAD v4: 1-150806780-A-G
• MyVariant Identifiers: chr1:g.150779256A>G (hg19) ; chr1:g.150806780A>G (hg38)
• PubMed: PMID:10571690 ; PMID:10634420

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806780A>G , CM000663.2:g.150806780A>G	GRCh38
NC_000001.10:g.150779256A>G , CM000663.1:g.150779256A>G	GRCh37
NC_000001.9:g.149045880A>G	NCBI36
NG_011848.1:g.6557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.26T>C MANE Select	ENSP00000271651.3:p.Leu9Pro
ENST00000443913.2:c.203T>C	ENSP00000405083.2:p.Leu68Pro
ENST00000480670.2:n.2634T>C
ENST00000676680.1:c.26T>C	ENSP00000503270.1:p.Leu9Pro
ENST00000676716.1:c.26T>C	ENSP00000504737.1:p.Leu9Pro
ENST00000676751.1:c.26T>C	ENSP00000502964.1:p.Leu9Pro
ENST00000676824.1:c.26T>C	ENSP00000504176.1:p.Leu9Pro
ENST00000676966.1:c.26T>C	ENSP00000503723.1:p.Leu9Pro
ENST00000676970.1:c.26T>C	ENSP00000503832.1:p.Leu9Pro
ENST00000677330.1:n.1391T>C
ENST00000677887.1:c.68T>C	ENSP00000503876.1:p.Leu23Pro
ENST00000678275.1:c.26T>C	ENSP00000504796.1:p.Leu9Pro
ENST00000678337.1:c.62T>C	ENSP00000504759.1:p.Leu21Pro
ENST00000678725.1:n.1003T>C
ENST00000679090.1:n.150T>C
ENST00000679148.1:n.906T>C
ENST00000679171.1:n.1926T>C
ENST00000679260.1:c.26T>C	ENSP00000504534.1:p.Leu9Pro
ENST00000271651.7:c.26T>C	ENSP00000271651.3:p.Leu9Pro
ENST00000443913.1:c.203T>C	ENSP00000405083.1:p.Leu68Pro
NM_000396.3:c.26T>C	NP_000387.1:p.Leu9Pro
NM_000396.4:c.26T>C MANE Select	NP_000387.1:p.Leu9Pro