Canonical Allele Identifier: CA342336327

Gene: CTSK

Linked Data

• dbSNP Id: rs199555702
• gnomAD v2: 1-150776499-G-C
• gnomAD v4: 1-150804023-G-C
• MyVariant Identifiers: chr1:g.150776499G>C (hg19) ; chr1:g.150804023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804023G>C , CM000663.2:g.150804023G>C	GRCh38
NC_000001.10:g.150776499G>C , CM000663.1:g.150776499G>C	GRCh37
NC_000001.9:g.149043123G>C	NCBI36
NG_011848.1:g.9314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.616C>G MANE Select	ENSP00000271651.3:p.Gln206Glu
ENST00000443913.2:c.793C>G	ENSP00000405083.2:p.Gln265Glu
ENST00000480670.2:n.3685C>G
ENST00000676680.1:c.616C>G	ENSP00000503270.1:p.Gln206Glu
ENST00000676716.1:c.493C>G	ENSP00000504737.1:p.Gln165Glu
ENST00000676751.1:c.616C>G	ENSP00000502964.1:p.Gln206Glu
ENST00000676824.1:c.616C>G	ENSP00000504176.1:p.Gln206Glu
ENST00000676966.1:c.616C>G	ENSP00000503723.1:p.Gln206Glu
ENST00000676970.1:c.616C>G	ENSP00000503832.1:p.Gln206Glu
ENST00000677330.1:n.2442C>G
ENST00000677611.1:n.468C>G
ENST00000677887.1:c.658C>G	ENSP00000503876.1:p.Gln220Glu
ENST00000678275.1:c.*508C>G	ENSP00000504796.1:n.*508C>G
ENST00000678337.1:c.652C>G	ENSP00000504759.1:p.Gln218Glu
ENST00000678725.1:n.1593C>G
ENST00000679090.1:n.1201C>G
ENST00000679148.1:n.3578C>G
ENST00000679171.1:n.2977C>G
ENST00000679260.1:c.399+1838C>G	ENSP00000504534.1:n.399+1838C>G
ENST00000271651.7:c.616C>G	ENSP00000271651.3:p.Gln206Glu
ENST00000480670.1:n.456C>G
NM_000396.3:c.616C>G	NP_000387.1:p.Gln206Glu
NM_000396.4:c.616C>G MANE Select	NP_000387.1:p.Gln206Glu