Canonical Allele Identifier: CA30095571

Gene: CTSK

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150799582A>G , CM000663.2:g.150799582A>G	GRCh38
NC_000001.10:g.150772058A>G , CM000663.1:g.150772058A>G	GRCh37
NC_000001.9:g.149038682A>G	NCBI36
NG_011848.1:g.13755T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000396.4:c.746T>C MANE Select	NP_000387.1:p.Ile249Thr
ENST00000271651.8:c.746T>C MANE Select	ENSP00000271651.3:p.Ile249Thr
NM_000396.3:c.746T>C	NP_000387.1:p.Ile249Thr
ENST00000271651.7:c.746T>C	ENSP00000271651.3:p.Ile249Thr
ENST00000443913.2:c.923T>C	ENSP00000405083.2:p.Ile308Thr
ENST00000480670.2:n.3815T>C
ENST00000676680.1:c.*40T>C	ENSP00000503270.1:n.*40T>C
ENST00000676716.1:c.623T>C	ENSP00000504737.1:p.Ile208Thr
ENST00000676751.1:c.746T>C	ENSP00000502964.1:p.Ile249Thr
ENST00000676824.1:c.746T>C	ENSP00000504176.1:p.Ile249Thr
ENST00000676966.1:c.746T>C	ENSP00000503723.1:p.Ile249Thr
ENST00000676970.1:c.746T>C	ENSP00000503832.1:p.Ile249Thr
ENST00000677330.1:n.2572T>C
ENST00000677611.1:n.598T>C
ENST00000677887.1:c.788T>C	ENSP00000503876.1:p.Ile263Thr
ENST00000678275.1:c.*638T>C	ENSP00000504796.1:n.*638T>C
ENST00000678337.1:c.782T>C	ENSP00000504759.1:p.Ile261Thr
ENST00000678725.1:n.1723T>C
ENST00000679090.1:n.1331T>C
ENST00000679148.1:n.3708T>C
ENST00000679171.1:n.3107T>C
ENST00000679178.1:n.457T>C
ENST00000679260.1:c.527T>C	ENSP00000504534.1:p.Ile176Thr