Canonical Allele Identifier: CA342336371

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804044-C-G
• MyVariant Identifiers: chr1:g.150776520C>G (hg19) ; chr1:g.150804044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804044C>G , CM000663.2:g.150804044C>G	GRCh38
NC_000001.10:g.150776520C>G , CM000663.1:g.150776520C>G	GRCh37
NC_000001.9:g.149043144C>G	NCBI36
NG_011848.1:g.9293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.595G>C MANE Select	ENSP00000271651.3:p.Asp199His
ENST00000443913.2:c.772G>C	ENSP00000405083.2:p.Asp258His
ENST00000480670.2:n.3664G>C
ENST00000676680.1:c.595G>C	ENSP00000503270.1:p.Asp199His
ENST00000676716.1:c.472G>C	ENSP00000504737.1:p.Asp158His
ENST00000676751.1:c.595G>C	ENSP00000502964.1:p.Asp199His
ENST00000676824.1:c.595G>C	ENSP00000504176.1:p.Asp199His
ENST00000676966.1:c.595G>C	ENSP00000503723.1:p.Asp199His
ENST00000676970.1:c.595G>C	ENSP00000503832.1:p.Asp199His
ENST00000677330.1:n.2421G>C
ENST00000677611.1:n.447G>C
ENST00000677887.1:c.637G>C	ENSP00000503876.1:p.Asp213His
ENST00000678275.1:c.*487G>C	ENSP00000504796.1:n.*487G>C
ENST00000678337.1:c.631G>C	ENSP00000504759.1:p.Asp211His
ENST00000678725.1:n.1572G>C
ENST00000679090.1:n.1180G>C
ENST00000679148.1:n.3557G>C
ENST00000679171.1:n.2956G>C
ENST00000679260.1:c.399+1817G>C	ENSP00000504534.1:n.399+1817G>C
ENST00000271651.7:c.595G>C	ENSP00000271651.3:p.Asp199His
ENST00000443913.1:c.772G>C	ENSP00000405083.1:p.Asp258His
ENST00000480670.1:n.435G>C
NM_000396.3:c.595G>C	NP_000387.1:p.Asp199His
NM_000396.4:c.595G>C MANE Select	NP_000387.1:p.Asp199His