Canonical Allele Identifier: CA342336438

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776550C>A (hg19) ; chr1:g.150804074C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804074C>A , CM000663.2:g.150804074C>A	GRCh38
NC_000001.10:g.150776550C>A , CM000663.1:g.150776550C>A	GRCh37
NC_000001.9:g.149043174C>A	NCBI36
NG_011848.1:g.9263G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.565G>T MANE Select	ENSP00000271651.3:p.Val189Leu
ENST00000443913.2:c.742G>T	ENSP00000405083.2:p.Val248Leu
ENST00000480670.2:n.3634G>T
ENST00000676680.1:c.565G>T	ENSP00000503270.1:p.Val189Leu
ENST00000676716.1:c.442G>T	ENSP00000504737.1:p.Val148Leu
ENST00000676751.1:c.565G>T	ENSP00000502964.1:p.Val189Leu
ENST00000676824.1:c.565G>T	ENSP00000504176.1:p.Val189Leu
ENST00000676966.1:c.565G>T	ENSP00000503723.1:p.Val189Leu
ENST00000676970.1:c.565G>T	ENSP00000503832.1:p.Val189Leu
ENST00000677330.1:n.2391G>T
ENST00000677611.1:n.417G>T
ENST00000677887.1:c.607G>T	ENSP00000503876.1:p.Val203Leu
ENST00000678275.1:c.*457G>T	ENSP00000504796.1:n.*457G>T
ENST00000678337.1:c.601G>T	ENSP00000504759.1:p.Val201Leu
ENST00000678725.1:n.1542G>T
ENST00000679090.1:n.1150G>T
ENST00000679148.1:n.3527G>T
ENST00000679171.1:n.2926G>T
ENST00000679260.1:c.399+1787G>T	ENSP00000504534.1:n.399+1787G>T
ENST00000271651.7:c.565G>T	ENSP00000271651.3:p.Val189Leu
ENST00000443913.1:c.742G>T	ENSP00000405083.1:p.Val248Leu
ENST00000480670.1:n.405G>T
NM_000396.3:c.565G>T	NP_000387.1:p.Val189Leu
NM_000396.4:c.565G>T MANE Select	NP_000387.1:p.Val189Leu