Canonical Allele Identifier: CA16040659

Gene: CTSK

Linked Data

• ClinVar Variation Id: 371429
• ClinVar RCV Id: RCV000408975
• dbSNP Id: rs1057517263
• MyVariant Identifiers: chr1:g.150778577C>T (hg19) ; chr1:g.150806101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806101C>T , CM000663.2:g.150806101C>T	GRCh38
NC_000001.10:g.150778577C>T , CM000663.1:g.150778577C>T	GRCh37
NC_000001.9:g.149045201C>T	NCBI36
NG_011848.1:g.7236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.243+1G>A MANE Select	ENSP00000271651.3:n.243+1G>A
ENST00000443913.2:c.420+1G>A	ENSP00000405083.2:n.420+1G>A
ENST00000480670.2:n.3312+1G>A
ENST00000676680.1:c.243+1G>A	ENSP00000503270.1:n.243+1G>A
ENST00000676716.1:c.121-85G>A	ENSP00000504737.1:n.121-85G>A
ENST00000676751.1:c.243+1G>A	ENSP00000502964.1:n.243+1G>A
ENST00000676824.1:c.243+1G>A	ENSP00000504176.1:n.243+1G>A
ENST00000676966.1:c.243+1G>A	ENSP00000503723.1:n.243+1G>A
ENST00000676970.1:c.243+1G>A	ENSP00000503832.1:n.243+1G>A
ENST00000677330.1:n.2069+1G>A
ENST00000677611.1:n.11G>A
ENST00000677887.1:c.285+1G>A	ENSP00000503876.1:n.285+1G>A
ENST00000678275.1:c.*135+1G>A	ENSP00000504796.1:n.*135+1G>A
ENST00000678337.1:c.279+1G>A	ENSP00000504759.1:n.279+1G>A
ENST00000678725.1:n.1220+1G>A
ENST00000679090.1:n.828+1G>A
ENST00000679148.1:n.1584+1G>A
ENST00000679171.1:n.2604+1G>A
ENST00000679260.1:c.243+1G>A	ENSP00000504534.1:n.243+1G>A
ENST00000271651.7:c.243+1G>A	ENSP00000271651.3:n.243+1G>A
ENST00000443913.1:c.420+1G>A	ENSP00000405083.1:n.420+1G>A
ENST00000480670.1:n.84-85G>A
NM_000396.3:c.243+1G>A	NP_000387.1:n.243+1G>A
NM_000396.4:c.243+1G>A MANE Select	NP_000387.1:n.243+1G>A