Canonical Allele Identifier: CA30097841

Gene: CTSK

Linked Data

• dbSNP Id: rs761204120
• gnomAD v4: 1-150804165-T-C
• MyVariant Identifiers: chr1:g.150776641T>C (hg19) ; chr1:g.150804165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804165T>C , CM000663.2:g.150804165T>C	GRCh38
NC_000001.10:g.150776641T>C , CM000663.1:g.150776641T>C	GRCh37
NC_000001.9:g.149043265T>C	NCBI36
NG_011848.1:g.9172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.474A>G MANE Select	ENSP00000271651.3:p.Lys158=
ENST00000443913.2:c.651A>G	ENSP00000405083.2:p.Lys217=
ENST00000480670.2:n.3543A>G
ENST00000676680.1:c.474A>G	ENSP00000503270.1:p.Lys158=
ENST00000676716.1:c.351A>G	ENSP00000504737.1:p.Lys117=
ENST00000676751.1:c.474A>G	ENSP00000502964.1:p.Lys158=
ENST00000676824.1:c.474A>G	ENSP00000504176.1:p.Lys158=
ENST00000676966.1:c.474A>G	ENSP00000503723.1:p.Lys158=
ENST00000676970.1:c.474A>G	ENSP00000503832.1:p.Lys158=
ENST00000677330.1:n.2300A>G
ENST00000677611.1:n.326A>G
ENST00000677887.1:c.516A>G	ENSP00000503876.1:p.Lys172=
ENST00000678275.1:c.*366A>G	ENSP00000504796.1:n.*366A>G
ENST00000678337.1:c.510A>G	ENSP00000504759.1:p.Lys170=
ENST00000678725.1:n.1451A>G
ENST00000679090.1:n.1059A>G
ENST00000679148.1:n.3436A>G
ENST00000679171.1:n.2835A>G
ENST00000679260.1:c.399+1696A>G	ENSP00000504534.1:n.399+1696A>G
ENST00000271651.7:c.474A>G	ENSP00000271651.3:p.Lys158=
ENST00000443913.1:c.651A>G	ENSP00000405083.1:p.Lys217=
ENST00000480670.1:n.314A>G
NM_000396.3:c.474A>G	NP_000387.1:p.Lys158=
NM_000396.4:c.474A>G MANE Select	NP_000387.1:p.Lys158=