Canonical Allele Identifier: CA342336636

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776640G>A (hg19) ; chr1:g.150804164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804164G>A , CM000663.2:g.150804164G>A	GRCh38
NC_000001.10:g.150776640G>A , CM000663.1:g.150776640G>A	GRCh37
NC_000001.9:g.149043264G>A	NCBI36
NG_011848.1:g.9173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.475C>T MANE Select	ENSP00000271651.3:p.Leu159Phe
ENST00000443913.2:c.652C>T	ENSP00000405083.2:p.Leu218Phe
ENST00000480670.2:n.3544C>T
ENST00000676680.1:c.475C>T	ENSP00000503270.1:p.Leu159Phe
ENST00000676716.1:c.352C>T	ENSP00000504737.1:p.Leu118Phe
ENST00000676751.1:c.475C>T	ENSP00000502964.1:p.Leu159Phe
ENST00000676824.1:c.475C>T	ENSP00000504176.1:p.Leu159Phe
ENST00000676966.1:c.475C>T	ENSP00000503723.1:p.Leu159Phe
ENST00000676970.1:c.475C>T	ENSP00000503832.1:p.Leu159Phe
ENST00000677330.1:n.2301C>T
ENST00000677611.1:n.327C>T
ENST00000677887.1:c.517C>T	ENSP00000503876.1:p.Leu173Phe
ENST00000678275.1:c.*367C>T	ENSP00000504796.1:n.*367C>T
ENST00000678337.1:c.511C>T	ENSP00000504759.1:p.Leu171Phe
ENST00000678725.1:n.1452C>T
ENST00000679090.1:n.1060C>T
ENST00000679148.1:n.3437C>T
ENST00000679171.1:n.2836C>T
ENST00000679260.1:c.399+1697C>T	ENSP00000504534.1:n.399+1697C>T
ENST00000271651.7:c.475C>T	ENSP00000271651.3:p.Leu159Phe
ENST00000443913.1:c.652C>T	ENSP00000405083.1:p.Leu218Phe
ENST00000480670.1:n.315C>T
NM_000396.3:c.475C>T	NP_000387.1:p.Leu159Phe
NM_000396.4:c.475C>T MANE Select	NP_000387.1:p.Leu159Phe