Canonical Allele Identifier: CA1080500

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1141623
• ClinVar RCV Id: RCV001479127
• dbSNP Id: rs372083237
• ExAC: 1:150776602 C / T
• gnomAD v2: 1-150776602-C-T
• gnomAD v3: 1-150804126-C-T
• gnomAD v4: 1-150804126-C-T
• MyVariant Identifiers: chr1:g.150776602C>T (hg19) ; chr1:g.150804126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804126C>T , CM000663.2:g.150804126C>T	GRCh38
NC_000001.10:g.150776602C>T , CM000663.1:g.150776602C>T	GRCh37
NC_000001.9:g.149043226C>T	NCBI36
NG_011848.1:g.9211G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.513G>A MANE Select	ENSP00000271651.3:p.Val171=
ENST00000443913.2:c.690G>A	ENSP00000405083.2:p.Val230=
ENST00000480670.2:n.3582G>A
ENST00000676680.1:c.513G>A	ENSP00000503270.1:p.Val171=
ENST00000676716.1:c.390G>A	ENSP00000504737.1:p.Val130=
ENST00000676751.1:c.513G>A	ENSP00000502964.1:p.Val171=
ENST00000676824.1:c.513G>A	ENSP00000504176.1:p.Val171=
ENST00000676966.1:c.513G>A	ENSP00000503723.1:p.Val171=
ENST00000676970.1:c.513G>A	ENSP00000503832.1:p.Val171=
ENST00000677330.1:n.2339G>A
ENST00000677611.1:n.365G>A
ENST00000677887.1:c.555G>A	ENSP00000503876.1:p.Val185=
ENST00000678275.1:c.*405G>A	ENSP00000504796.1:n.*405G>A
ENST00000678337.1:c.549G>A	ENSP00000504759.1:p.Val183=
ENST00000678725.1:n.1490G>A
ENST00000679090.1:n.1098G>A
ENST00000679148.1:n.3475G>A
ENST00000679171.1:n.2874G>A
ENST00000679260.1:c.399+1735G>A	ENSP00000504534.1:n.399+1735G>A
ENST00000271651.7:c.513G>A	ENSP00000271651.3:p.Val171=
ENST00000443913.1:c.690G>A	ENSP00000405083.1:p.Val230=
ENST00000480670.1:n.353G>A
NM_000396.3:c.513G>A	NP_000387.1:p.Val171=
NM_000396.4:c.513G>A MANE Select	NP_000387.1:p.Val171=