Canonical Allele Identifier: CA342336743

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804212-T-G
• MyVariant Identifiers: chr1:g.150776688T>G (hg19) ; chr1:g.150804212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804212T>G , CM000663.2:g.150804212T>G	GRCh38
NC_000001.10:g.150776688T>G , CM000663.1:g.150776688T>G	GRCh37
NC_000001.9:g.149043312T>G	NCBI36
NG_011848.1:g.9125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.427A>C MANE Select	ENSP00000271651.3:p.Ser143Arg
ENST00000443913.2:c.604A>C	ENSP00000405083.2:p.Ser202Arg
ENST00000480670.2:n.3496A>C
ENST00000676680.1:c.427A>C	ENSP00000503270.1:p.Ser143Arg
ENST00000676716.1:c.304A>C	ENSP00000504737.1:p.Ser102Arg
ENST00000676751.1:c.427A>C	ENSP00000502964.1:p.Ser143Arg
ENST00000676824.1:c.427A>C	ENSP00000504176.1:p.Ser143Arg
ENST00000676966.1:c.427A>C	ENSP00000503723.1:p.Ser143Arg
ENST00000676970.1:c.427A>C	ENSP00000503832.1:p.Ser143Arg
ENST00000677330.1:n.2253A>C
ENST00000677611.1:n.279A>C
ENST00000677887.1:c.469A>C	ENSP00000503876.1:p.Ser157Arg
ENST00000678275.1:c.*319A>C	ENSP00000504796.1:n.*319A>C
ENST00000678337.1:c.463A>C	ENSP00000504759.1:p.Ser155Arg
ENST00000678725.1:n.1404A>C
ENST00000679090.1:n.1012A>C
ENST00000679148.1:n.3389A>C
ENST00000679171.1:n.2788A>C
ENST00000679260.1:c.399+1649A>C	ENSP00000504534.1:n.399+1649A>C
ENST00000271651.7:c.427A>C	ENSP00000271651.3:p.Ser143Arg
ENST00000443913.1:c.604A>C	ENSP00000405083.1:p.Ser202Arg
ENST00000480670.1:n.267A>C
NM_000396.3:c.427A>C	NP_000387.1:p.Ser143Arg
NM_000396.4:c.427A>C MANE Select	NP_000387.1:p.Ser143Arg