Canonical Allele Identifier: CA342336763

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1076504
• ClinVar RCV Id: RCV001390449
• dbSNP Id: rs2101951671
• gnomAD v4: 1-150804220-C-T
• MyVariant Identifiers: chr1:g.150776696C>T (hg19) ; chr1:g.150804220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804220C>T , CM000663.2:g.150804220C>T	GRCh38
NC_000001.10:g.150776696C>T , CM000663.1:g.150776696C>T	GRCh37
NC_000001.9:g.149043320C>T	NCBI36
NG_011848.1:g.9117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.419G>A MANE Select	ENSP00000271651.3:p.Trp140Ter
ENST00000443913.2:c.596G>A	ENSP00000405083.2:p.Trp199Ter
ENST00000480670.2:n.3488G>A
ENST00000676680.1:c.419G>A	ENSP00000503270.1:p.Trp140Ter
ENST00000676716.1:c.296G>A	ENSP00000504737.1:p.Trp99Ter
ENST00000676751.1:c.419G>A	ENSP00000502964.1:p.Trp140Ter
ENST00000676824.1:c.419G>A	ENSP00000504176.1:p.Trp140Ter
ENST00000676966.1:c.419G>A	ENSP00000503723.1:p.Trp140Ter
ENST00000676970.1:c.419G>A	ENSP00000503832.1:p.Trp140Ter
ENST00000677330.1:n.2245G>A
ENST00000677611.1:n.271G>A
ENST00000677887.1:c.461G>A	ENSP00000503876.1:p.Trp154Ter
ENST00000678275.1:c.*311G>A	ENSP00000504796.1:n.*311G>A
ENST00000678337.1:c.455G>A	ENSP00000504759.1:p.Trp152Ter
ENST00000678725.1:n.1396G>A
ENST00000679090.1:n.1004G>A
ENST00000679148.1:n.3381G>A
ENST00000679171.1:n.2780G>A
ENST00000679260.1:c.399+1641G>A	ENSP00000504534.1:n.399+1641G>A
ENST00000271651.7:c.419G>A	ENSP00000271651.3:p.Trp140Ter
ENST00000443913.1:c.596G>A	ENSP00000405083.1:p.Trp199Ter
ENST00000480670.1:n.259G>A
NM_000396.3:c.419G>A	NP_000387.1:p.Trp140Ter
NM_000396.4:c.419G>A MANE Select	NP_000387.1:p.Trp140Ter