Canonical Allele Identifier: CA420699520

Gene: CTSK

Linked Data

• ClinVar Variation Id: 2836964
• ClinVar RCV Id: RCV003692326
• gnomAD v4: 1-150804228-A-T
• MyVariant Identifiers: chr1:g.150776704A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804228A>T , CM000663.2:g.150804228A>T	GRCh38
NC_000001.10:g.150776704A>T , CM000663.1:g.150776704A>T	GRCh37
NC_000001.9:g.149043328A>T	NCBI36
NG_011848.1:g.9109T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.411T>A MANE Select	ENSP00000271651.3:p.Gly137=
ENST00000443913.2:c.588T>A	ENSP00000405083.2:p.Gly196=
ENST00000480670.2:n.3480T>A
ENST00000676680.1:c.411T>A	ENSP00000503270.1:p.Gly137=
ENST00000676716.1:c.288T>A	ENSP00000504737.1:p.Gly96=
ENST00000676751.1:c.411T>A	ENSP00000502964.1:p.Gly137=
ENST00000676824.1:c.411T>A	ENSP00000504176.1:p.Gly137=
ENST00000676966.1:c.411T>A	ENSP00000503723.1:p.Gly137=
ENST00000676970.1:c.411T>A	ENSP00000503832.1:p.Gly137=
ENST00000677330.1:n.2237T>A
ENST00000677611.1:n.263T>A
ENST00000677887.1:c.453T>A	ENSP00000503876.1:p.Gly151=
ENST00000678275.1:c.*303T>A	ENSP00000504796.1:n.*303T>A
ENST00000678337.1:c.447T>A	ENSP00000504759.1:p.Gly149=
ENST00000678725.1:n.1388T>A
ENST00000679090.1:n.996T>A
ENST00000679148.1:n.3373T>A
ENST00000679171.1:n.2772T>A
ENST00000679260.1:c.399+1633T>A	ENSP00000504534.1:n.399+1633T>A
ENST00000271651.7:c.411T>A	ENSP00000271651.3:p.Gly137=
ENST00000443913.1:c.588T>A	ENSP00000405083.1:p.Gly196=
ENST00000480670.1:n.251T>A
NM_000396.3:c.411T>A	NP_000387.1:p.Gly137=
NM_000396.4:c.411T>A MANE Select	NP_000387.1:p.Gly137=