Canonical Allele Identifier: CA342336582

Gene: CTSK

Linked Data

• dbSNP Id: rs1213730273
• gnomAD v2: 1-150776615-A-C
• MyVariant Identifiers: chr1:g.150776615A>C (hg19) ; chr1:g.150804139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804139A>C , CM000663.2:g.150804139A>C	GRCh38
NC_000001.10:g.150776615A>C , CM000663.1:g.150776615A>C	GRCh37
NC_000001.9:g.149043239A>C	NCBI36
NG_011848.1:g.9198T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.500T>G MANE Select	ENSP00000271651.3:p.Leu167Arg
ENST00000443913.2:c.677T>G	ENSP00000405083.2:p.Leu226Arg
ENST00000480670.2:n.3569T>G
ENST00000676680.1:c.500T>G	ENSP00000503270.1:p.Leu167Arg
ENST00000676716.1:c.377T>G	ENSP00000504737.1:p.Leu126Arg
ENST00000676751.1:c.500T>G	ENSP00000502964.1:p.Leu167Arg
ENST00000676824.1:c.500T>G	ENSP00000504176.1:p.Leu167Arg
ENST00000676966.1:c.500T>G	ENSP00000503723.1:p.Leu167Arg
ENST00000676970.1:c.500T>G	ENSP00000503832.1:p.Leu167Arg
ENST00000677330.1:n.2326T>G
ENST00000677611.1:n.352T>G
ENST00000677887.1:c.542T>G	ENSP00000503876.1:p.Leu181Arg
ENST00000678275.1:c.*392T>G	ENSP00000504796.1:n.*392T>G
ENST00000678337.1:c.536T>G	ENSP00000504759.1:p.Leu179Arg
ENST00000678725.1:n.1477T>G
ENST00000679090.1:n.1085T>G
ENST00000679148.1:n.3462T>G
ENST00000679171.1:n.2861T>G
ENST00000679260.1:c.399+1722T>G	ENSP00000504534.1:n.399+1722T>G
ENST00000271651.7:c.500T>G	ENSP00000271651.3:p.Leu167Arg
ENST00000443913.1:c.677T>G	ENSP00000405083.1:p.Leu226Arg
ENST00000480670.1:n.340T>G
NM_000396.3:c.500T>G	NP_000387.1:p.Leu167Arg
NM_000396.4:c.500T>G MANE Select	NP_000387.1:p.Leu167Arg