Canonical Allele Identifier: CA342336419

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776542C>A (hg19) ; chr1:g.150804066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804066C>A , CM000663.2:g.150804066C>A	GRCh38
NC_000001.10:g.150776542C>A , CM000663.1:g.150776542C>A	GRCh37
NC_000001.9:g.149043166C>A	NCBI36
NG_011848.1:g.9271G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.573G>T MANE Select	ENSP00000271651.3:p.Lys191Asn
ENST00000443913.2:c.750G>T	ENSP00000405083.2:p.Lys250Asn
ENST00000480670.2:n.3642G>T
ENST00000676680.1:c.573G>T	ENSP00000503270.1:p.Lys191Asn
ENST00000676716.1:c.450G>T	ENSP00000504737.1:p.Lys150Asn
ENST00000676751.1:c.573G>T	ENSP00000502964.1:p.Lys191Asn
ENST00000676824.1:c.573G>T	ENSP00000504176.1:p.Lys191Asn
ENST00000676966.1:c.573G>T	ENSP00000503723.1:p.Lys191Asn
ENST00000676970.1:c.573G>T	ENSP00000503832.1:p.Lys191Asn
ENST00000677330.1:n.2399G>T
ENST00000677611.1:n.425G>T
ENST00000677887.1:c.615G>T	ENSP00000503876.1:p.Lys205Asn
ENST00000678275.1:c.*465G>T	ENSP00000504796.1:n.*465G>T
ENST00000678337.1:c.609G>T	ENSP00000504759.1:p.Lys203Asn
ENST00000678725.1:n.1550G>T
ENST00000679090.1:n.1158G>T
ENST00000679148.1:n.3535G>T
ENST00000679171.1:n.2934G>T
ENST00000679260.1:c.399+1795G>T	ENSP00000504534.1:n.399+1795G>T
ENST00000271651.7:c.573G>T	ENSP00000271651.3:p.Lys191Asn
ENST00000443913.1:c.750G>T	ENSP00000405083.1:p.Lys250Asn
ENST00000480670.1:n.413G>T
NM_000396.3:c.573G>T	NP_000387.1:p.Lys191Asn
NM_000396.4:c.573G>T MANE Select	NP_000387.1:p.Lys191Asn