Canonical Allele Identifier: CA1080391

Gene: CTSK

Linked Data

• ClinVar Variation Id: 371426
• ClinVar RCV Id: RCV000410122 ; RCV001232559
• dbSNP Id: rs375958814
• ExAC: 1:150769331 G / A
• gnomAD v2: 1-150769331-G-A
• gnomAD v3: 1-150796855-G-A
• gnomAD v4: 1-150796855-G-A
• COSMIC: COSM895608
• MyVariant Identifiers: chr1:g.150769331G>A (hg19) ; chr1:g.150796855G>A (hg38)
• PubMed: PMID:11181082 ; PMID:24767306

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150796855G>A , CM000663.2:g.150796855G>A	GRCh38
NC_000001.10:g.150769331G>A , CM000663.1:g.150769331G>A	GRCh37
NC_000001.9:g.149035955G>A	NCBI36
NG_011848.1:g.16482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.934C>T MANE Select	ENSP00000271651.3:p.Arg312Ter
ENST00000443913.2:c.1111C>T	ENSP00000405083.2:p.Arg371Ter
ENST00000480670.2:n.4003C>T
ENST00000676680.1:c.*228C>T	ENSP00000503270.1:n.*228C>T
ENST00000676716.1:c.811C>T	ENSP00000504737.1:p.Arg271Ter
ENST00000676751.1:c.828C>T	ENSP00000502964.1:p.Leu276=
ENST00000676824.1:c.934C>T	ENSP00000504176.1:p.Arg312Ter
ENST00000676966.1:c.934C>T	ENSP00000503723.1:p.Arg312Ter
ENST00000676970.1:c.946C>T	ENSP00000503832.1:p.Arg316Ter
ENST00000677330.1:n.2760C>T
ENST00000677611.1:n.786C>T
ENST00000677887.1:c.976C>T	ENSP00000503876.1:p.Arg326Ter
ENST00000678275.1:c.*826C>T	ENSP00000504796.1:n.*826C>T
ENST00000678337.1:c.970C>T	ENSP00000504759.1:p.Arg324Ter
ENST00000678725.1:n.2181C>T
ENST00000679090.1:n.1789C>T
ENST00000679148.1:n.3896C>T
ENST00000679171.1:n.3565C>T
ENST00000679178.1:n.645C>T
ENST00000679260.1:c.715C>T	ENSP00000504534.1:p.Arg239Ter
ENST00000271651.7:c.934C>T	ENSP00000271651.3:p.Arg312Ter
NM_000396.3:c.934C>T	NP_000387.1:p.Arg312Ter
NM_000396.4:c.934C>T MANE Select	NP_000387.1:p.Arg312Ter