Canonical Allele Identifier: CA420699427

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1580989
• ClinVar RCV Id: RCV002094964
• dbSNP Id: rs2101951523
• gnomAD v4: 1-150804117-A-G
• MyVariant Identifiers: chr1:g.150776593A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804117A>G , CM000663.2:g.150804117A>G	GRCh38
NC_000001.10:g.150776593A>G , CM000663.1:g.150776593A>G	GRCh37
NC_000001.9:g.149043217A>G	NCBI36
NG_011848.1:g.9220T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.522T>C MANE Select	ENSP00000271651.3:p.Asn174=
ENST00000443913.2:c.699T>C	ENSP00000405083.2:p.Asn233=
ENST00000480670.2:n.3591T>C
ENST00000676680.1:c.522T>C	ENSP00000503270.1:p.Asn174=
ENST00000676716.1:c.399T>C	ENSP00000504737.1:p.Asn133=
ENST00000676751.1:c.522T>C	ENSP00000502964.1:p.Asn174=
ENST00000676824.1:c.522T>C	ENSP00000504176.1:p.Asn174=
ENST00000676966.1:c.522T>C	ENSP00000503723.1:p.Asn174=
ENST00000676970.1:c.522T>C	ENSP00000503832.1:p.Asn174=
ENST00000677330.1:n.2348T>C
ENST00000677611.1:n.374T>C
ENST00000677887.1:c.564T>C	ENSP00000503876.1:p.Asn188=
ENST00000678275.1:c.*414T>C	ENSP00000504796.1:n.*414T>C
ENST00000678337.1:c.558T>C	ENSP00000504759.1:p.Asn186=
ENST00000678725.1:n.1499T>C
ENST00000679090.1:n.1107T>C
ENST00000679148.1:n.3484T>C
ENST00000679171.1:n.2883T>C
ENST00000679260.1:c.399+1744T>C	ENSP00000504534.1:n.399+1744T>C
ENST00000271651.7:c.522T>C	ENSP00000271651.3:p.Asn174=
ENST00000443913.1:c.699T>C	ENSP00000405083.1:p.Asn233=
ENST00000480670.1:n.362T>C
NM_000396.3:c.522T>C	NP_000387.1:p.Asn174=
NM_000396.4:c.522T>C MANE Select	NP_000387.1:p.Asn174=