Canonical Allele Identifier: CA342336540

Gene: CTSK

Linked Data

• MyVariant Identifiers: chr1:g.150776595T>G (hg19) ; chr1:g.150804119T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804119T>G , CM000663.2:g.150804119T>G	GRCh38
NC_000001.10:g.150776595T>G , CM000663.1:g.150776595T>G	GRCh37
NC_000001.9:g.149043219T>G	NCBI36
NG_011848.1:g.9218A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.520A>C MANE Select	ENSP00000271651.3:p.Asn174His
ENST00000443913.2:c.697A>C	ENSP00000405083.2:p.Asn233His
ENST00000480670.2:n.3589A>C
ENST00000676680.1:c.520A>C	ENSP00000503270.1:p.Asn174His
ENST00000676716.1:c.397A>C	ENSP00000504737.1:p.Asn133His
ENST00000676751.1:c.520A>C	ENSP00000502964.1:p.Asn174His
ENST00000676824.1:c.520A>C	ENSP00000504176.1:p.Asn174His
ENST00000676966.1:c.520A>C	ENSP00000503723.1:p.Asn174His
ENST00000676970.1:c.520A>C	ENSP00000503832.1:p.Asn174His
ENST00000677330.1:n.2346A>C
ENST00000677611.1:n.372A>C
ENST00000677887.1:c.562A>C	ENSP00000503876.1:p.Asn188His
ENST00000678275.1:c.*412A>C	ENSP00000504796.1:n.*412A>C
ENST00000678337.1:c.556A>C	ENSP00000504759.1:p.Asn186His
ENST00000678725.1:n.1497A>C
ENST00000679090.1:n.1105A>C
ENST00000679148.1:n.3482A>C
ENST00000679171.1:n.2881A>C
ENST00000679260.1:c.399+1742A>C	ENSP00000504534.1:n.399+1742A>C
ENST00000271651.7:c.520A>C	ENSP00000271651.3:p.Asn174His
ENST00000443913.1:c.697A>C	ENSP00000405083.1:p.Asn233His
ENST00000480670.1:n.360A>C
NM_000396.3:c.520A>C	NP_000387.1:p.Asn174His
NM_000396.4:c.520A>C MANE Select	NP_000387.1:p.Asn174His