Canonical Allele Identifier: CA342336493

Gene: CTSK

Linked Data

• dbSNP Id: rs1654042518
• gnomAD v4: 1-150804097-T-G
• MyVariant Identifiers: chr1:g.150776573T>G (hg19) ; chr1:g.150804097T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804097T>G , CM000663.2:g.150804097T>G	GRCh38
NC_000001.10:g.150776573T>G , CM000663.1:g.150776573T>G	GRCh37
NC_000001.9:g.149043197T>G	NCBI36
NG_011848.1:g.9240A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.542A>C MANE Select	ENSP00000271651.3:p.Tyr181Ser
ENST00000443913.2:c.719A>C	ENSP00000405083.2:p.Tyr240Ser
ENST00000480670.2:n.3611A>C
ENST00000676680.1:c.542A>C	ENSP00000503270.1:p.Tyr181Ser
ENST00000676716.1:c.419A>C	ENSP00000504737.1:p.Tyr140Ser
ENST00000676751.1:c.542A>C	ENSP00000502964.1:p.Tyr181Ser
ENST00000676824.1:c.542A>C	ENSP00000504176.1:p.Tyr181Ser
ENST00000676966.1:c.542A>C	ENSP00000503723.1:p.Tyr181Ser
ENST00000676970.1:c.542A>C	ENSP00000503832.1:p.Tyr181Ser
ENST00000677330.1:n.2368A>C
ENST00000677611.1:n.394A>C
ENST00000677887.1:c.584A>C	ENSP00000503876.1:p.Tyr195Ser
ENST00000678275.1:c.*434A>C	ENSP00000504796.1:n.*434A>C
ENST00000678337.1:c.578A>C	ENSP00000504759.1:p.Tyr193Ser
ENST00000678725.1:n.1519A>C
ENST00000679090.1:n.1127A>C
ENST00000679148.1:n.3504A>C
ENST00000679171.1:n.2903A>C
ENST00000679260.1:c.399+1764A>C	ENSP00000504534.1:n.399+1764A>C
ENST00000271651.7:c.542A>C	ENSP00000271651.3:p.Tyr181Ser
ENST00000443913.1:c.719A>C	ENSP00000405083.1:p.Tyr240Ser
ENST00000480670.1:n.382A>C
NM_000396.3:c.542A>C	NP_000387.1:p.Tyr181Ser
NM_000396.4:c.542A>C MANE Select	NP_000387.1:p.Tyr181Ser