Canonical Allele Identifier: CA379092432

Gene: CTSD

Linked Data

• COSMIC: COSM1675721
• MyVariant Identifiers: chr11:g.1774794T>C (hg19) ; chr11:g.1753564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753564T>C , CM000673.2:g.1753564T>C	GRCh38
NC_000011.9:g.1774794T>C , CM000673.1:g.1774794T>C	GRCh37
NC_000011.8:g.1731370T>C	NCBI36
NG_008655.1:g.15429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1178A>G MANE Select	ENSP00000236671.2:p.Tyr393Cys
ENST00000367196.4:c.1073A>G	ENSP00000356164.4:p.Tyr358Cys
ENST00000427721.3:c.603A>G
ENST00000429746.2:c.1073A>G	ENSP00000402586.2:p.Tyr358Cys
ENST00000433655.6:c.*344A>G	ENSP00000404902.1:n.*344A>G
ENST00000438213.6:c.1295A>G	ENSP00000415036.2:p.Tyr432Cys
ENST00000636397.1:c.1071+239A>G	ENSP00000489910.1:n.1071+239A>G
ENST00000636571.1:c.1157A>G	ENSP00000490770.1:p.Tyr386Cys
ENST00000636579.1:c.72+239A>G	ENSP00000490489.1:n.72+239A>G
ENST00000636615.1:c.1071+239A>G	ENSP00000490014.1:n.1071+239A>G
ENST00000636843.1:c.1172A>G	ENSP00000490897.1:p.Tyr391Cys
ENST00000637158.1:n.776A>G
ENST00000637381.2:n.3606A>G
ENST00000637387.1:c.1157A>G	ENSP00000490598.1:p.Tyr386Cys
ENST00000637815.2:c.1160A>G	ENSP00000490344.1:p.Tyr387Cys
ENST00000637915.1:c.1169A>G	ENSP00000490471.1:p.Tyr390Cys
ENST00000637937.1:n.486A>G
ENST00000678991.1:c.*1039A>G	ENSP00000503019.1:n.*1039A>G
ENST00000236671.6:c.1178A>G	ENSP00000236671.2:p.Tyr393Cys
ENST00000427721.2:c.471+239A>G	ENSP00000415840.2:n.471+239A>G
ENST00000429746.1:c.509A>G	ENSP00000402586.1:p.Tyr170Cys
ENST00000433655.5:c.*344A>G	ENSP00000404902.1:n.*344A>G
NM_001909.4:c.1178A>G	NP_001900.1:p.Tyr393Cys
NM_001909.5:c.1178A>G MANE Select	NP_001900.1:p.Tyr393Cys