Canonical Allele Identifier: CA342336520

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1516217
• ClinVar RCV Id: RCV002040793
• dbSNP Id: rs2101951513
• MyVariant Identifiers: chr1:g.150776588C>G (hg19) ; chr1:g.150804112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804112C>G , CM000663.2:g.150804112C>G	GRCh38
NC_000001.10:g.150776588C>G , CM000663.1:g.150776588C>G	GRCh37
NC_000001.9:g.149043212C>G	NCBI36
NG_011848.1:g.9225G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.527G>C MANE Select	ENSP00000271651.3:p.Gly176Ala
ENST00000443913.2:c.704G>C	ENSP00000405083.2:p.Gly235Ala
ENST00000480670.2:n.3596G>C
ENST00000676680.1:c.527G>C	ENSP00000503270.1:p.Gly176Ala
ENST00000676716.1:c.404G>C	ENSP00000504737.1:p.Gly135Ala
ENST00000676751.1:c.527G>C	ENSP00000502964.1:p.Gly176Ala
ENST00000676824.1:c.527G>C	ENSP00000504176.1:p.Gly176Ala
ENST00000676966.1:c.527G>C	ENSP00000503723.1:p.Gly176Ala
ENST00000676970.1:c.527G>C	ENSP00000503832.1:p.Gly176Ala
ENST00000677330.1:n.2353G>C
ENST00000677611.1:n.379G>C
ENST00000677887.1:c.569G>C	ENSP00000503876.1:p.Gly190Ala
ENST00000678275.1:c.*419G>C	ENSP00000504796.1:n.*419G>C
ENST00000678337.1:c.563G>C	ENSP00000504759.1:p.Gly188Ala
ENST00000678725.1:n.1504G>C
ENST00000679090.1:n.1112G>C
ENST00000679148.1:n.3489G>C
ENST00000679171.1:n.2888G>C
ENST00000679260.1:c.399+1749G>C	ENSP00000504534.1:n.399+1749G>C
ENST00000271651.7:c.527G>C	ENSP00000271651.3:p.Gly176Ala
ENST00000443913.1:c.704G>C	ENSP00000405083.1:p.Gly235Ala
ENST00000480670.1:n.367G>C
NM_000396.3:c.527G>C	NP_000387.1:p.Gly176Ala
NM_000396.4:c.527G>C MANE Select	NP_000387.1:p.Gly176Ala