Canonical Allele Identifier: CA30099663

Gene: CTSK

Linked Data

• dbSNP Id: rs938267905
• gnomAD v3: 1-150806765-A-C
• gnomAD v4: 1-150806765-A-C
• MyVariant Identifiers: chr1:g.150779241A>C (hg19) ; chr1:g.150806765A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806765A>C , CM000663.2:g.150806765A>C	GRCh38
NC_000001.10:g.150779241A>C , CM000663.1:g.150779241A>C	GRCh37
NC_000001.9:g.149045865A>C	NCBI36
NG_011848.1:g.6572T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.41T>G MANE Select	ENSP00000271651.3:p.Phe14Cys
ENST00000443913.2:c.218T>G	ENSP00000405083.2:p.Phe73Cys
ENST00000480670.2:n.2649T>G
ENST00000676680.1:c.41T>G	ENSP00000503270.1:p.Phe14Cys
ENST00000676716.1:c.41T>G	ENSP00000504737.1:p.Phe14Cys
ENST00000676751.1:c.41T>G	ENSP00000502964.1:p.Phe14Cys
ENST00000676824.1:c.41T>G	ENSP00000504176.1:p.Phe14Cys
ENST00000676966.1:c.41T>G	ENSP00000503723.1:p.Phe14Cys
ENST00000676970.1:c.41T>G	ENSP00000503832.1:p.Phe14Cys
ENST00000677330.1:n.1406T>G
ENST00000677887.1:c.83T>G	ENSP00000503876.1:p.Phe28Cys
ENST00000678275.1:c.41T>G	ENSP00000504796.1:p.Phe14Cys
ENST00000678337.1:c.77T>G	ENSP00000504759.1:p.Phe26Cys
ENST00000678725.1:n.1018T>G
ENST00000679090.1:n.165T>G
ENST00000679148.1:n.921T>G
ENST00000679171.1:n.1941T>G
ENST00000679260.1:c.41T>G	ENSP00000504534.1:p.Phe14Cys
ENST00000271651.7:c.41T>G	ENSP00000271651.3:p.Phe14Cys
ENST00000443913.1:c.218T>G	ENSP00000405083.1:p.Phe73Cys
ENST00000480670.1:n.4T>G
NM_000396.3:c.41T>G	NP_000387.1:p.Phe14Cys
NM_000396.4:c.41T>G MANE Select	NP_000387.1:p.Phe14Cys