Canonical Allele Identifier: CA1080487

Gene: CTSK

Linked Data

• dbSNP Id: rs754866059
• ExAC: 1:150776517 C / T
• gnomAD v2: 1-150776517-C-T
• gnomAD v3: 1-150804041-C-T
• gnomAD v4: 1-150804041-C-T
• MyVariant Identifiers: chr1:g.150776517C>T (hg19) ; chr1:g.150804041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804041C>T , CM000663.2:g.150804041C>T	GRCh38
NC_000001.10:g.150776517C>T , CM000663.1:g.150776517C>T	GRCh37
NC_000001.9:g.149043141C>T	NCBI36
NG_011848.1:g.9296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.598G>A MANE Select	ENSP00000271651.3:p.Ala200Thr
ENST00000443913.2:c.775G>A	ENSP00000405083.2:p.Ala259Thr
ENST00000480670.2:n.3667G>A
ENST00000676680.1:c.598G>A	ENSP00000503270.1:p.Ala200Thr
ENST00000676716.1:c.475G>A	ENSP00000504737.1:p.Ala159Thr
ENST00000676751.1:c.598G>A	ENSP00000502964.1:p.Ala200Thr
ENST00000676824.1:c.598G>A	ENSP00000504176.1:p.Ala200Thr
ENST00000676966.1:c.598G>A	ENSP00000503723.1:p.Ala200Thr
ENST00000676970.1:c.598G>A	ENSP00000503832.1:p.Ala200Thr
ENST00000677330.1:n.2424G>A
ENST00000677611.1:n.450G>A
ENST00000677887.1:c.640G>A	ENSP00000503876.1:p.Ala214Thr
ENST00000678275.1:c.*490G>A	ENSP00000504796.1:n.*490G>A
ENST00000678337.1:c.634G>A	ENSP00000504759.1:p.Ala212Thr
ENST00000678725.1:n.1575G>A
ENST00000679090.1:n.1183G>A
ENST00000679148.1:n.3560G>A
ENST00000679171.1:n.2959G>A
ENST00000679260.1:c.399+1820G>A	ENSP00000504534.1:n.399+1820G>A
ENST00000271651.7:c.598G>A	ENSP00000271651.3:p.Ala200Thr
ENST00000443913.1:c.775G>A
ENST00000480670.1:n.438G>A
NM_000396.3:c.598G>A	NP_000387.1:p.Ala200Thr
NM_000396.4:c.598G>A MANE Select	NP_000387.1:p.Ala200Thr