Canonical Allele Identifier: CA342336710

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776672A>T (hg19) ; chr1:g.150804196A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804196A>T , CM000663.2:g.150804196A>T	GRCh38
NC_000001.10:g.150776672A>T , CM000663.1:g.150776672A>T	GRCh37
NC_000001.9:g.149043296A>T	NCBI36
NG_011848.1:g.9141T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.443T>A MANE Select	ENSP00000271651.3:p.Leu148Gln
ENST00000443913.2:c.620T>A	ENSP00000405083.2:p.Leu207Gln
ENST00000480670.2:n.3512T>A
ENST00000676680.1:c.443T>A	ENSP00000503270.1:p.Leu148Gln
ENST00000676716.1:c.320T>A	ENSP00000504737.1:p.Leu107Gln
ENST00000676751.1:c.443T>A	ENSP00000502964.1:p.Leu148Gln
ENST00000676824.1:c.443T>A	ENSP00000504176.1:p.Leu148Gln
ENST00000676966.1:c.443T>A	ENSP00000503723.1:p.Leu148Gln
ENST00000676970.1:c.443T>A	ENSP00000503832.1:p.Leu148Gln
ENST00000677330.1:n.2269T>A
ENST00000677611.1:n.295T>A
ENST00000677887.1:c.485T>A	ENSP00000503876.1:p.Leu162Gln
ENST00000678275.1:c.*335T>A	ENSP00000504796.1:n.*335T>A
ENST00000678337.1:c.479T>A	ENSP00000504759.1:p.Leu160Gln
ENST00000678725.1:n.1420T>A
ENST00000679090.1:n.1028T>A
ENST00000679148.1:n.3405T>A
ENST00000679171.1:n.2804T>A
ENST00000679260.1:c.399+1665T>A	ENSP00000504534.1:n.399+1665T>A
ENST00000271651.7:c.443T>A	ENSP00000271651.3:p.Leu148Gln
ENST00000443913.1:c.620T>A	ENSP00000405083.1:p.Leu207Gln
ENST00000480670.1:n.283T>A
NM_000396.3:c.443T>A	NP_000387.1:p.Leu148Gln
NM_000396.4:c.443T>A MANE Select	NP_000387.1:p.Leu148Gln