Canonical Allele Identifier: CA1080495

Gene: CTSK

Linked Data

• dbSNP Id: rs760059010
• ExAC: 1:150776582 C / T
• gnomAD v2: 1-150776582-C-T
• gnomAD v4: 1-150804106-C-T
• MyVariant Identifiers: chr1:g.150776582C>T (hg19) ; chr1:g.150804106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804106C>T , CM000663.2:g.150804106C>T	GRCh38
NC_000001.10:g.150776582C>T , CM000663.1:g.150776582C>T	GRCh37
NC_000001.9:g.149043206C>T	NCBI36
NG_011848.1:g.9231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.533G>A MANE Select	ENSP00000271651.3:p.Gly178Glu
ENST00000443913.2:c.710G>A	ENSP00000405083.2:p.Gly237Glu
ENST00000480670.2:n.3602G>A
ENST00000676680.1:c.533G>A	ENSP00000503270.1:p.Gly178Glu
ENST00000676716.1:c.410G>A	ENSP00000504737.1:p.Gly137Glu
ENST00000676751.1:c.533G>A	ENSP00000502964.1:p.Gly178Glu
ENST00000676824.1:c.533G>A	ENSP00000504176.1:p.Gly178Glu
ENST00000676966.1:c.533G>A	ENSP00000503723.1:p.Gly178Glu
ENST00000676970.1:c.533G>A	ENSP00000503832.1:p.Gly178Glu
ENST00000677330.1:n.2359G>A
ENST00000677611.1:n.385G>A
ENST00000677887.1:c.575G>A	ENSP00000503876.1:p.Gly192Glu
ENST00000678275.1:c.*425G>A	ENSP00000504796.1:n.*425G>A
ENST00000678337.1:c.569G>A	ENSP00000504759.1:p.Gly190Glu
ENST00000678725.1:n.1510G>A
ENST00000679090.1:n.1118G>A
ENST00000679148.1:n.3495G>A
ENST00000679171.1:n.2894G>A
ENST00000679260.1:c.399+1755G>A	ENSP00000504534.1:n.399+1755G>A
ENST00000271651.7:c.533G>A	ENSP00000271651.3:p.Gly178Glu
ENST00000443913.1:c.710G>A	ENSP00000405083.1:p.Gly237Glu
ENST00000480670.1:n.373G>A
NM_000396.3:c.533G>A	NP_000387.1:p.Gly178Glu
NM_000396.4:c.533G>A MANE Select	NP_000387.1:p.Gly178Glu