Canonical Allele Identifier: CA342336515

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804109-C-A
• MyVariant Identifiers: chr1:g.150776585C>A (hg19) ; chr1:g.150804109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804109C>A , CM000663.2:g.150804109C>A	GRCh38
NC_000001.10:g.150776585C>A , CM000663.1:g.150776585C>A	GRCh37
NC_000001.9:g.149043209C>A	NCBI36
NG_011848.1:g.9228G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.530G>T MANE Select	ENSP00000271651.3:p.Cys177Phe
ENST00000443913.2:c.707G>T	ENSP00000405083.2:p.Cys236Phe
ENST00000480670.2:n.3599G>T
ENST00000676680.1:c.530G>T	ENSP00000503270.1:p.Cys177Phe
ENST00000676716.1:c.407G>T	ENSP00000504737.1:p.Cys136Phe
ENST00000676751.1:c.530G>T	ENSP00000502964.1:p.Cys177Phe
ENST00000676824.1:c.530G>T	ENSP00000504176.1:p.Cys177Phe
ENST00000676966.1:c.530G>T	ENSP00000503723.1:p.Cys177Phe
ENST00000676970.1:c.530G>T	ENSP00000503832.1:p.Cys177Phe
ENST00000677330.1:n.2356G>T
ENST00000677611.1:n.382G>T
ENST00000677887.1:c.572G>T	ENSP00000503876.1:p.Cys191Phe
ENST00000678275.1:c.*422G>T	ENSP00000504796.1:n.*422G>T
ENST00000678337.1:c.566G>T	ENSP00000504759.1:p.Cys189Phe
ENST00000678725.1:n.1507G>T
ENST00000679090.1:n.1115G>T
ENST00000679148.1:n.3492G>T
ENST00000679171.1:n.2891G>T
ENST00000679260.1:c.399+1752G>T	ENSP00000504534.1:n.399+1752G>T
ENST00000271651.7:c.530G>T	ENSP00000271651.3:p.Cys177Phe
ENST00000443913.1:c.707G>T	ENSP00000405083.1:p.Cys236Phe
ENST00000480670.1:n.370G>T
NM_000396.3:c.530G>T	NP_000387.1:p.Cys177Phe
NM_000396.4:c.530G>T MANE Select	NP_000387.1:p.Cys177Phe