Canonical Allele Identifier: CA342336769

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776699C>A (hg19) ; chr1:g.150804223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804223C>A , CM000663.2:g.150804223C>A	GRCh38
NC_000001.10:g.150776699C>A , CM000663.1:g.150776699C>A	GRCh37
NC_000001.9:g.149043323C>A	NCBI36
NG_011848.1:g.9114G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.416G>T MANE Select	ENSP00000271651.3:p.Cys139Phe
ENST00000443913.2:c.593G>T	ENSP00000405083.2:p.Cys198Phe
ENST00000480670.2:n.3485G>T
ENST00000676680.1:c.416G>T	ENSP00000503270.1:p.Cys139Phe
ENST00000676716.1:c.293G>T	ENSP00000504737.1:p.Cys98Phe
ENST00000676751.1:c.416G>T	ENSP00000502964.1:p.Cys139Phe
ENST00000676824.1:c.416G>T	ENSP00000504176.1:p.Cys139Phe
ENST00000676966.1:c.416G>T	ENSP00000503723.1:p.Cys139Phe
ENST00000676970.1:c.416G>T	ENSP00000503832.1:p.Cys139Phe
ENST00000677330.1:n.2242G>T
ENST00000677611.1:n.268G>T
ENST00000677887.1:c.458G>T	ENSP00000503876.1:p.Cys153Phe
ENST00000678275.1:c.*308G>T	ENSP00000504796.1:n.*308G>T
ENST00000678337.1:c.452G>T	ENSP00000504759.1:p.Cys151Phe
ENST00000678725.1:n.1393G>T
ENST00000679090.1:n.1001G>T
ENST00000679148.1:n.3378G>T
ENST00000679171.1:n.2777G>T
ENST00000679260.1:c.399+1638G>T	ENSP00000504534.1:n.399+1638G>T
ENST00000271651.7:c.416G>T	ENSP00000271651.3:p.Cys139Phe
ENST00000443913.1:c.593G>T	ENSP00000405083.1:p.Cys198Phe
ENST00000480670.1:n.256G>T
NM_000396.3:c.416G>T	NP_000387.1:p.Cys139Phe
NM_000396.4:c.416G>T MANE Select	NP_000387.1:p.Cys139Phe