Canonical Allele Identifier: CA342336750

Gene: CTSK

Linked Data

• dbSNP Id: rs1328740486
• gnomAD v2: 1-150776691-A-G
• gnomAD v3: 1-150804215-A-G
• gnomAD v4: 1-150804215-A-G
• MyVariant Identifiers: chr1:g.150776691A>G (hg19) ; chr1:g.150804215A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804215A>G , CM000663.2:g.150804215A>G	GRCh38
NC_000001.10:g.150776691A>G , CM000663.1:g.150776691A>G	GRCh37
NC_000001.9:g.149043315A>G	NCBI36
NG_011848.1:g.9122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.424T>C MANE Select	ENSP00000271651.3:p.Phe142Leu
ENST00000443913.2:c.601T>C	ENSP00000405083.2:p.Phe201Leu
ENST00000480670.2:n.3493T>C
ENST00000676680.1:c.424T>C	ENSP00000503270.1:p.Phe142Leu
ENST00000676716.1:c.301T>C	ENSP00000504737.1:p.Phe101Leu
ENST00000676751.1:c.424T>C	ENSP00000502964.1:p.Phe142Leu
ENST00000676824.1:c.424T>C	ENSP00000504176.1:p.Phe142Leu
ENST00000676966.1:c.424T>C	ENSP00000503723.1:p.Phe142Leu
ENST00000676970.1:c.424T>C	ENSP00000503832.1:p.Phe142Leu
ENST00000677330.1:n.2250T>C
ENST00000677611.1:n.276T>C
ENST00000677887.1:c.466T>C	ENSP00000503876.1:p.Phe156Leu
ENST00000678275.1:c.*316T>C	ENSP00000504796.1:n.*316T>C
ENST00000678337.1:c.460T>C	ENSP00000504759.1:p.Phe154Leu
ENST00000678725.1:n.1401T>C
ENST00000679090.1:n.1009T>C
ENST00000679148.1:n.3386T>C
ENST00000679171.1:n.2785T>C
ENST00000679260.1:c.399+1646T>C	ENSP00000504534.1:n.399+1646T>C
ENST00000271651.7:c.424T>C	ENSP00000271651.3:p.Phe142Leu
ENST00000443913.1:c.601T>C	ENSP00000405083.1:p.Phe201Leu
ENST00000480670.1:n.264T>C
NM_000396.3:c.424T>C	NP_000387.1:p.Phe142Leu
NM_000396.4:c.424T>C MANE Select	NP_000387.1:p.Phe142Leu