Canonical Allele Identifier: CA342336344

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804031-T-C
• MyVariant Identifiers: chr1:g.150776507T>C (hg19) ; chr1:g.150804031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804031T>C , CM000663.2:g.150804031T>C	GRCh38
NC_000001.10:g.150776507T>C , CM000663.1:g.150776507T>C	GRCh37
NC_000001.9:g.149043131T>C	NCBI36
NG_011848.1:g.9306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.608A>G MANE Select	ENSP00000271651.3:p.Tyr203Cys
ENST00000443913.2:c.785A>G	ENSP00000405083.2:p.Tyr262Cys
ENST00000480670.2:n.3677A>G
ENST00000676680.1:c.608A>G	ENSP00000503270.1:p.Tyr203Cys
ENST00000676716.1:c.485A>G	ENSP00000504737.1:p.Tyr162Cys
ENST00000676751.1:c.608A>G	ENSP00000502964.1:p.Tyr203Cys
ENST00000676824.1:c.608A>G	ENSP00000504176.1:p.Tyr203Cys
ENST00000676966.1:c.608A>G	ENSP00000503723.1:p.Tyr203Cys
ENST00000676970.1:c.608A>G	ENSP00000503832.1:p.Tyr203Cys
ENST00000677330.1:n.2434A>G
ENST00000677611.1:n.460A>G
ENST00000677887.1:c.650A>G	ENSP00000503876.1:p.Tyr217Cys
ENST00000678275.1:c.*500A>G	ENSP00000504796.1:n.*500A>G
ENST00000678337.1:c.644A>G	ENSP00000504759.1:p.Tyr215Cys
ENST00000678725.1:n.1585A>G
ENST00000679090.1:n.1193A>G
ENST00000679148.1:n.3570A>G
ENST00000679171.1:n.2969A>G
ENST00000679260.1:c.399+1830A>G	ENSP00000504534.1:n.399+1830A>G
ENST00000271651.7:c.608A>G	ENSP00000271651.3:p.Tyr203Cys
ENST00000480670.1:n.448A>G
NM_000396.3:c.608A>G	NP_000387.1:p.Tyr203Cys
NM_000396.4:c.608A>G MANE Select	NP_000387.1:p.Tyr203Cys