Canonical Allele Identifier: CA16040661

Gene: CTSK

Linked Data

• ClinVar Variation Id: 371447
• ClinVar RCV Id: RCV000410647 ; RCV003679001
• dbSNP Id: rs1057517279
• gnomAD v2: 1-150779161-C-T
• gnomAD v4: 1-150806685-C-T
• MyVariant Identifiers: chr1:g.150779161C>T (hg19) ; chr1:g.150806685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806685C>T , CM000663.2:g.150806685C>T	GRCh38
NC_000001.10:g.150779161C>T , CM000663.1:g.150779161C>T	GRCh37
NC_000001.9:g.149045785C>T	NCBI36
NG_011848.1:g.6652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.120+1G>A MANE Select	ENSP00000271651.3:n.120+1G>A
ENST00000443913.2:c.297+1G>A	ENSP00000405083.2:n.297+1G>A
ENST00000480670.2:n.2729G>A
ENST00000676680.1:c.120+1G>A	ENSP00000503270.1:n.120+1G>A
ENST00000676716.1:c.120+1G>A	ENSP00000504737.1:n.120+1G>A
ENST00000676751.1:c.120+1G>A	ENSP00000502964.1:n.120+1G>A
ENST00000676824.1:c.120+1G>A	ENSP00000504176.1:n.120+1G>A
ENST00000676966.1:c.120+1G>A	ENSP00000503723.1:n.120+1G>A
ENST00000676970.1:c.120+1G>A	ENSP00000503832.1:n.120+1G>A
ENST00000677330.1:n.1486G>A
ENST00000677887.1:c.162+1G>A	ENSP00000503876.1:n.162+1G>A
ENST00000678275.1:c.120+1G>A	ENSP00000504796.1:n.120+1G>A
ENST00000678337.1:c.156+1G>A	ENSP00000504759.1:n.156+1G>A
ENST00000678725.1:n.1097+1G>A
ENST00000679090.1:n.245G>A
ENST00000679148.1:n.1001G>A
ENST00000679171.1:n.2021G>A
ENST00000679260.1:c.120+1G>A	ENSP00000504534.1:n.120+1G>A
ENST00000271651.7:c.120+1G>A	ENSP00000271651.3:n.120+1G>A
ENST00000443913.1:c.297+1G>A	ENSP00000405083.1:n.297+1G>A
ENST00000480670.1:n.83+1G>A
NM_000396.3:c.120+1G>A	NP_000387.1:n.120+1G>A
NM_000396.4:c.120+1G>A MANE Select	NP_000387.1:n.120+1G>A