Canonical Allele Identifier: CA342336459

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776559A>C (hg19) ; chr1:g.150804083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804083A>C , CM000663.2:g.150804083A>C	GRCh38
NC_000001.10:g.150776559A>C , CM000663.1:g.150776559A>C	GRCh37
NC_000001.9:g.149043183A>C	NCBI36
NG_011848.1:g.9254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.556T>G MANE Select	ENSP00000271651.3:p.Phe186Val
ENST00000443913.2:c.733T>G	ENSP00000405083.2:p.Phe245Val
ENST00000480670.2:n.3625T>G
ENST00000676680.1:c.556T>G	ENSP00000503270.1:p.Phe186Val
ENST00000676716.1:c.433T>G	ENSP00000504737.1:p.Phe145Val
ENST00000676751.1:c.556T>G	ENSP00000502964.1:p.Phe186Val
ENST00000676824.1:c.556T>G	ENSP00000504176.1:p.Phe186Val
ENST00000676966.1:c.556T>G	ENSP00000503723.1:p.Phe186Val
ENST00000676970.1:c.556T>G	ENSP00000503832.1:p.Phe186Val
ENST00000677330.1:n.2382T>G
ENST00000677611.1:n.408T>G
ENST00000677887.1:c.598T>G	ENSP00000503876.1:p.Phe200Val
ENST00000678275.1:c.*448T>G	ENSP00000504796.1:n.*448T>G
ENST00000678337.1:c.592T>G	ENSP00000504759.1:p.Phe198Val
ENST00000678725.1:n.1533T>G
ENST00000679090.1:n.1141T>G
ENST00000679148.1:n.3518T>G
ENST00000679171.1:n.2917T>G
ENST00000679260.1:c.399+1778T>G	ENSP00000504534.1:n.399+1778T>G
ENST00000271651.7:c.556T>G	ENSP00000271651.3:p.Phe186Val
ENST00000443913.1:c.733T>G	ENSP00000405083.1:p.Phe245Val
ENST00000480670.1:n.396T>G
NM_000396.3:c.556T>G	NP_000387.1:p.Phe186Val
NM_000396.4:c.556T>G MANE Select	NP_000387.1:p.Phe186Val