Canonical Allele Identifier: CA342336622

Gene: CTSK

Linked Data

• dbSNP Id: rs1402899433
• gnomAD v2: 1-150776633-T-C
• gnomAD v4: 1-150804157-T-C
• MyVariant Identifiers: chr1:g.150776633T>C (hg19) ; chr1:g.150804157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804157T>C , CM000663.2:g.150804157T>C	GRCh38
NC_000001.10:g.150776633T>C , CM000663.1:g.150776633T>C	GRCh37
NC_000001.9:g.149043257T>C	NCBI36
NG_011848.1:g.9180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.482A>G MANE Select	ENSP00000271651.3:p.Asn161Ser
ENST00000443913.2:c.659A>G	ENSP00000405083.2:p.Asn220Ser
ENST00000480670.2:n.3551A>G
ENST00000676680.1:c.482A>G	ENSP00000503270.1:p.Asn161Ser
ENST00000676716.1:c.359A>G	ENSP00000504737.1:p.Asn120Ser
ENST00000676751.1:c.482A>G	ENSP00000502964.1:p.Asn161Ser
ENST00000676824.1:c.482A>G	ENSP00000504176.1:p.Asn161Ser
ENST00000676966.1:c.482A>G	ENSP00000503723.1:p.Asn161Ser
ENST00000676970.1:c.482A>G	ENSP00000503832.1:p.Asn161Ser
ENST00000677330.1:n.2308A>G
ENST00000677611.1:n.334A>G
ENST00000677887.1:c.524A>G	ENSP00000503876.1:p.Asn175Ser
ENST00000678275.1:c.*374A>G	ENSP00000504796.1:n.*374A>G
ENST00000678337.1:c.518A>G	ENSP00000504759.1:p.Asn173Ser
ENST00000678725.1:n.1459A>G
ENST00000679090.1:n.1067A>G
ENST00000679148.1:n.3444A>G
ENST00000679171.1:n.2843A>G
ENST00000679260.1:c.399+1704A>G	ENSP00000504534.1:n.399+1704A>G
ENST00000271651.7:c.482A>G	ENSP00000271651.3:p.Asn161Ser
ENST00000443913.1:c.659A>G	ENSP00000405083.1:p.Asn220Ser
ENST00000480670.1:n.322A>G
NM_000396.3:c.482A>G	NP_000387.1:p.Asn161Ser
NM_000396.4:c.482A>G MANE Select	NP_000387.1:p.Asn161Ser