Canonical Allele Identifier: CA342336574

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1403033
• ClinVar RCV Id: RCV001908838
• dbSNP Id: rs2101951545
• MyVariant Identifiers: chr1:g.150776610C>T (hg19) ; chr1:g.150804134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804134C>T , CM000663.2:g.150804134C>T	GRCh38
NC_000001.10:g.150776610C>T , CM000663.1:g.150776610C>T	GRCh37
NC_000001.9:g.149043234C>T	NCBI36
NG_011848.1:g.9203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.505G>A MANE Select	ENSP00000271651.3:p.Asp169Asn
ENST00000443913.2:c.682G>A	ENSP00000405083.2:p.Asp228Asn
ENST00000480670.2:n.3574G>A
ENST00000676680.1:c.505G>A	ENSP00000503270.1:p.Asp169Asn
ENST00000676716.1:c.382G>A	ENSP00000504737.1:p.Asp128Asn
ENST00000676751.1:c.505G>A	ENSP00000502964.1:p.Asp169Asn
ENST00000676824.1:c.505G>A	ENSP00000504176.1:p.Asp169Asn
ENST00000676966.1:c.505G>A	ENSP00000503723.1:p.Asp169Asn
ENST00000676970.1:c.505G>A	ENSP00000503832.1:p.Asp169Asn
ENST00000677330.1:n.2331G>A
ENST00000677611.1:n.357G>A
ENST00000677887.1:c.547G>A	ENSP00000503876.1:p.Asp183Asn
ENST00000678275.1:c.*397G>A	ENSP00000504796.1:n.*397G>A
ENST00000678337.1:c.541G>A	ENSP00000504759.1:p.Asp181Asn
ENST00000678725.1:n.1482G>A
ENST00000679090.1:n.1090G>A
ENST00000679148.1:n.3467G>A
ENST00000679171.1:n.2866G>A
ENST00000679260.1:c.399+1727G>A	ENSP00000504534.1:n.399+1727G>A
ENST00000271651.7:c.505G>A	ENSP00000271651.3:p.Asp169Asn
ENST00000443913.1:c.682G>A	ENSP00000405083.1:p.Asp228Asn
ENST00000480670.1:n.345G>A
NM_000396.3:c.505G>A	NP_000387.1:p.Asp169Asn
NM_000396.4:c.505G>A MANE Select	NP_000387.1:p.Asp169Asn