Canonical Allele Identifier: CA30097701

Gene: CTSK

Linked Data

• dbSNP Id: rs200839013
• gnomAD v4: 1-150804104-C-T
• MyVariant Identifiers: chr1:g.150776580C>T (hg19) ; chr1:g.150804104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804104C>T , CM000663.2:g.150804104C>T	GRCh38
NC_000001.10:g.150776580C>T , CM000663.1:g.150776580C>T	GRCh37
NC_000001.9:g.149043204C>T	NCBI36
NG_011848.1:g.9233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.535G>A MANE Select	ENSP00000271651.3:p.Gly179Arg
ENST00000443913.2:c.712G>A	ENSP00000405083.2:p.Gly238Arg
ENST00000480670.2:n.3604G>A
ENST00000676680.1:c.535G>A	ENSP00000503270.1:p.Gly179Arg
ENST00000676716.1:c.412G>A	ENSP00000504737.1:p.Gly138Arg
ENST00000676751.1:c.535G>A	ENSP00000502964.1:p.Gly179Arg
ENST00000676824.1:c.535G>A	ENSP00000504176.1:p.Gly179Arg
ENST00000676966.1:c.535G>A	ENSP00000503723.1:p.Gly179Arg
ENST00000676970.1:c.535G>A	ENSP00000503832.1:p.Gly179Arg
ENST00000677330.1:n.2361G>A
ENST00000677611.1:n.387G>A
ENST00000677887.1:c.577G>A	ENSP00000503876.1:p.Gly193Arg
ENST00000678275.1:c.*427G>A	ENSP00000504796.1:n.*427G>A
ENST00000678337.1:c.571G>A	ENSP00000504759.1:p.Gly191Arg
ENST00000678725.1:n.1512G>A
ENST00000679090.1:n.1120G>A
ENST00000679148.1:n.3497G>A
ENST00000679171.1:n.2896G>A
ENST00000679260.1:c.399+1757G>A	ENSP00000504534.1:n.399+1757G>A
ENST00000271651.7:c.535G>A	ENSP00000271651.3:p.Gly179Arg
ENST00000443913.1:c.712G>A	ENSP00000405083.1:p.Gly238Arg
ENST00000480670.1:n.375G>A
NM_000396.3:c.535G>A	NP_000387.1:p.Gly179Arg
NM_000396.4:c.535G>A MANE Select	NP_000387.1:p.Gly179Arg