Canonical Allele Identifier: CA342336452

Gene: CTSK

Linked Data

• dbSNP Id: rs1654042203
• gnomAD v4: 1-150804080-G-C
• MyVariant Identifiers: chr1:g.150776556G>C (hg19) ; chr1:g.150804080G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804080G>C , CM000663.2:g.150804080G>C	GRCh38
NC_000001.10:g.150776556G>C , CM000663.1:g.150776556G>C	GRCh37
NC_000001.9:g.149043180G>C	NCBI36
NG_011848.1:g.9257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.559C>G MANE Select	ENSP00000271651.3:p.Gln187Glu
ENST00000443913.2:c.736C>G	ENSP00000405083.2:p.Gln246Glu
ENST00000480670.2:n.3628C>G
ENST00000676680.1:c.559C>G	ENSP00000503270.1:p.Gln187Glu
ENST00000676716.1:c.436C>G	ENSP00000504737.1:p.Gln146Glu
ENST00000676751.1:c.559C>G	ENSP00000502964.1:p.Gln187Glu
ENST00000676824.1:c.559C>G	ENSP00000504176.1:p.Gln187Glu
ENST00000676966.1:c.559C>G	ENSP00000503723.1:p.Gln187Glu
ENST00000676970.1:c.559C>G	ENSP00000503832.1:p.Gln187Glu
ENST00000677330.1:n.2385C>G
ENST00000677611.1:n.411C>G
ENST00000677887.1:c.601C>G	ENSP00000503876.1:p.Gln201Glu
ENST00000678275.1:c.*451C>G	ENSP00000504796.1:n.*451C>G
ENST00000678337.1:c.595C>G	ENSP00000504759.1:p.Gln199Glu
ENST00000678725.1:n.1536C>G
ENST00000679090.1:n.1144C>G
ENST00000679148.1:n.3521C>G
ENST00000679171.1:n.2920C>G
ENST00000679260.1:c.399+1781C>G	ENSP00000504534.1:n.399+1781C>G
ENST00000271651.7:c.559C>G	ENSP00000271651.3:p.Gln187Glu
ENST00000443913.1:c.736C>G	ENSP00000405083.1:p.Gln246Glu
ENST00000480670.1:n.399C>G
NM_000396.3:c.559C>G	NP_000387.1:p.Gln187Glu
NM_000396.4:c.559C>G MANE Select	NP_000387.1:p.Gln187Glu