Canonical Allele Identifier: CA379095901

Gene: CTSD

Linked Data

• ClinVar Variation Id: 864333
• ClinVar RCV Id: RCV001071491
• dbSNP Id: rs1845822086
• COSMIC: COSM4031859
• MyVariant Identifiers: chr11:g.1778593T>C (hg19) ; chr11:g.1757363T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757363T>C , CM000673.2:g.1757363T>C	GRCh38
NC_000011.9:g.1778593T>C , CM000673.1:g.1778593T>C	GRCh37
NC_000011.8:g.1735169T>C	NCBI36
NG_008655.1:g.11630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.665A>G MANE Select	ENSP00000236671.2:p.Lys222Arg
ENST00000367196.4:c.560A>G	ENSP00000356164.4:p.Lys187Arg
ENST00000427721.3:c.90A>G
ENST00000429746.2:c.560A>G	ENSP00000402586.2:p.Lys187Arg
ENST00000433655.6:c.665A>G	ENSP00000404902.1:p.Lys222Arg
ENST00000438213.6:c.665A>G	ENSP00000415036.2:p.Lys222Arg
ENST00000636397.1:c.665A>G	ENSP00000489910.1:p.Lys222Arg
ENST00000636571.1:c.644A>G	ENSP00000490770.1:p.Lys215Arg
ENST00000636615.1:c.665A>G	ENSP00000490014.1:p.Lys222Arg
ENST00000636843.1:c.659A>G	ENSP00000490897.1:p.Lys220Arg
ENST00000637158.1:n.263A>G
ENST00000637381.2:n.3093A>G
ENST00000637387.1:c.665A>G	ENSP00000490598.1:p.Lys222Arg
ENST00000637815.2:c.665A>G	ENSP00000490344.1:p.Lys222Arg
ENST00000637915.1:c.665A>G	ENSP00000490471.1:p.Lys222Arg
ENST00000677300.1:n.1060A>G
ENST00000678991.1:c.*526A>G	ENSP00000503019.1:n.*526A>G
ENST00000236671.6:c.665A>G	ENSP00000236671.2:p.Lys222Arg
ENST00000367196.3:c.560A>G	ENSP00000356164.3:p.Lys187Arg
ENST00000427721.2:c.65A>G	ENSP00000415840.2:p.Lys22Arg
ENST00000433655.5:c.665A>G	ENSP00000404902.1:p.Lys222Arg
ENST00000438213.5:c.620A>G	ENSP00000415036.1:p.Lys207Arg
NM_001909.4:c.665A>G	NP_001900.1:p.Lys222Arg
NM_001909.5:c.665A>G MANE Select	NP_001900.1:p.Lys222Arg