Canonical Allele Identifier: CA1080499

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1082561
• ClinVar RCV Id: RCV001398936
• dbSNP Id: rs201315936
• ExAC: 1:150776596 C / G
• gnomAD v2: 1-150776596-C-G
• gnomAD v3: 1-150804120-C-G
• gnomAD v4: 1-150804120-C-G
• MyVariant Identifiers: chr1:g.150776596C>G (hg19) ; chr1:g.150804120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804120C>G , CM000663.2:g.150804120C>G	GRCh38
NC_000001.10:g.150776596C>G , CM000663.1:g.150776596C>G	GRCh37
NC_000001.9:g.149043220C>G	NCBI36
NG_011848.1:g.9217G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.519G>C MANE Select	ENSP00000271651.3:p.Glu173Asp
ENST00000443913.2:c.696G>C	ENSP00000405083.2:p.Glu232Asp
ENST00000480670.2:n.3588G>C
ENST00000676680.1:c.519G>C	ENSP00000503270.1:p.Glu173Asp
ENST00000676716.1:c.396G>C	ENSP00000504737.1:p.Glu132Asp
ENST00000676751.1:c.519G>C	ENSP00000502964.1:p.Glu173Asp
ENST00000676824.1:c.519G>C	ENSP00000504176.1:p.Glu173Asp
ENST00000676966.1:c.519G>C	ENSP00000503723.1:p.Glu173Asp
ENST00000676970.1:c.519G>C	ENSP00000503832.1:p.Glu173Asp
ENST00000677330.1:n.2345G>C
ENST00000677611.1:n.371G>C
ENST00000677887.1:c.561G>C	ENSP00000503876.1:p.Glu187Asp
ENST00000678275.1:c.*411G>C	ENSP00000504796.1:n.*411G>C
ENST00000678337.1:c.555G>C	ENSP00000504759.1:p.Glu185Asp
ENST00000678725.1:n.1496G>C
ENST00000679090.1:n.1104G>C
ENST00000679148.1:n.3481G>C
ENST00000679171.1:n.2880G>C
ENST00000679260.1:c.399+1741G>C	ENSP00000504534.1:n.399+1741G>C
ENST00000271651.7:c.519G>C	ENSP00000271651.3:p.Glu173Asp
ENST00000443913.1:c.696G>C	ENSP00000405083.1:p.Glu232Asp
ENST00000480670.1:n.359G>C
NM_000396.3:c.519G>C	NP_000387.1:p.Glu173Asp
NM_000396.4:c.519G>C MANE Select	NP_000387.1:p.Glu173Asp