Canonical Allele Identifier: CA342336580

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776613C>G (hg19) ; chr1:g.150804137C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804137C>G , CM000663.2:g.150804137C>G	GRCh38
NC_000001.10:g.150776613C>G , CM000663.1:g.150776613C>G	GRCh37
NC_000001.9:g.149043237C>G	NCBI36
NG_011848.1:g.9200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.502G>C MANE Select	ENSP00000271651.3:p.Val168Leu
ENST00000443913.2:c.679G>C	ENSP00000405083.2:p.Val227Leu
ENST00000480670.2:n.3571G>C
ENST00000676680.1:c.502G>C	ENSP00000503270.1:p.Val168Leu
ENST00000676716.1:c.379G>C	ENSP00000504737.1:p.Val127Leu
ENST00000676751.1:c.502G>C	ENSP00000502964.1:p.Val168Leu
ENST00000676824.1:c.502G>C	ENSP00000504176.1:p.Val168Leu
ENST00000676966.1:c.502G>C	ENSP00000503723.1:p.Val168Leu
ENST00000676970.1:c.502G>C	ENSP00000503832.1:p.Val168Leu
ENST00000677330.1:n.2328G>C
ENST00000677611.1:n.354G>C
ENST00000677887.1:c.544G>C	ENSP00000503876.1:p.Val182Leu
ENST00000678275.1:c.*394G>C	ENSP00000504796.1:n.*394G>C
ENST00000678337.1:c.538G>C	ENSP00000504759.1:p.Val180Leu
ENST00000678725.1:n.1479G>C
ENST00000679090.1:n.1087G>C
ENST00000679148.1:n.3464G>C
ENST00000679171.1:n.2863G>C
ENST00000679260.1:c.399+1724G>C	ENSP00000504534.1:n.399+1724G>C
ENST00000271651.7:c.502G>C	ENSP00000271651.3:p.Val168Leu
ENST00000443913.1:c.679G>C	ENSP00000405083.1:p.Val227Leu
ENST00000480670.1:n.342G>C
NM_000396.3:c.502G>C	NP_000387.1:p.Val168Leu
NM_000396.4:c.502G>C MANE Select	NP_000387.1:p.Val168Leu