Canonical Allele Identifier: CA16040660

Gene: CTSK

Linked Data

• ClinVar Variation Id: 370558
• ClinVar RCV Id: RCV000410588 ; RCV001861371
• dbSNP Id: rs1057516587
• gnomAD v4: 1-150806226-T-C
• MyVariant Identifiers: chr1:g.150778702T>C (hg19) ; chr1:g.150806226T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806226T>C , CM000663.2:g.150806226T>C	GRCh38
NC_000001.10:g.150778702T>C , CM000663.1:g.150778702T>C	GRCh37
NC_000001.9:g.149045326T>C	NCBI36
NG_011848.1:g.7111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.121-2A>G MANE Select	ENSP00000271651.3:n.121-2A>G
ENST00000443913.2:c.298-2A>G	ENSP00000405083.2:n.298-2A>G
ENST00000480670.2:n.3188A>G
ENST00000676680.1:c.121-2A>G	ENSP00000503270.1:n.121-2A>G
ENST00000676716.1:c.121-210A>G	ENSP00000504737.1:n.121-210A>G
ENST00000676751.1:c.121-2A>G	ENSP00000502964.1:n.121-2A>G
ENST00000676824.1:c.121-2A>G	ENSP00000504176.1:n.121-2A>G
ENST00000676966.1:c.121-2A>G	ENSP00000503723.1:n.121-2A>G
ENST00000676970.1:c.121-2A>G	ENSP00000503832.1:n.121-2A>G
ENST00000677330.1:n.1945A>G
ENST00000677887.1:c.163-2A>G	ENSP00000503876.1:n.163-2A>G
ENST00000678275.1:c.*13-2A>G	ENSP00000504796.1:n.*13-2A>G
ENST00000678337.1:c.157-2A>G	ENSP00000504759.1:n.157-2A>G
ENST00000678725.1:n.1098-2A>G
ENST00000679090.1:n.704A>G
ENST00000679148.1:n.1460A>G
ENST00000679171.1:n.2480A>G
ENST00000679260.1:c.121-2A>G	ENSP00000504534.1:n.121-2A>G
ENST00000271651.7:c.121-2A>G	ENSP00000271651.3:n.121-2A>G
ENST00000443913.1:c.298-2A>G	ENSP00000405083.1:n.298-2A>G
ENST00000480670.1:n.84-210A>G
NM_000396.3:c.121-2A>G	NP_000387.1:n.121-2A>G
NM_000396.4:c.121-2A>G MANE Select	NP_000387.1:n.121-2A>G