Canonical Allele Identifier: CA379092561

Gene: CTSD

Linked Data

• COSMIC: COSM3710034
• MyVariant Identifiers: chr11:g.1774833C>A (hg19) ; chr11:g.1753603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753603C>A , CM000673.2:g.1753603C>A	GRCh38
NC_000011.9:g.1774833C>A , CM000673.1:g.1774833C>A	GRCh37
NC_000011.8:g.1731409C>A	NCBI36
NG_008655.1:g.15390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1139G>T MANE Select	ENSP00000236671.2:p.Gly380Val
ENST00000367196.4:c.1034G>T	ENSP00000356164.4:p.Gly345Val
ENST00000427721.3:c.564G>T
ENST00000429746.2:c.1034G>T	ENSP00000402586.2:p.Gly345Val
ENST00000433655.6:c.*305G>T	ENSP00000404902.1:n.*305G>T
ENST00000438213.6:c.1256G>T	ENSP00000415036.2:p.Gly419Val
ENST00000636397.1:c.1071+200G>T	ENSP00000489910.1:n.1071+200G>T
ENST00000636571.1:c.1118G>T	ENSP00000490770.1:p.Gly373Val
ENST00000636579.1:c.72+200G>T	ENSP00000490489.1:n.72+200G>T
ENST00000636615.1:c.1071+200G>T	ENSP00000490014.1:n.1071+200G>T
ENST00000636843.1:c.1133G>T	ENSP00000490897.1:p.Gly378Val
ENST00000637158.1:n.737G>T
ENST00000637381.2:n.3567G>T
ENST00000637387.1:c.1118G>T	ENSP00000490598.1:p.Gly373Val
ENST00000637815.2:c.1121G>T	ENSP00000490344.1:p.Gly374Val
ENST00000637915.1:c.1130G>T	ENSP00000490471.1:p.Gly377Val
ENST00000637937.1:n.447G>T
ENST00000678991.1:c.*1000G>T	ENSP00000503019.1:n.*1000G>T
ENST00000236671.6:c.1139G>T	ENSP00000236671.2:p.Gly380Val
ENST00000427721.2:c.471+200G>T	ENSP00000415840.2:n.471+200G>T
ENST00000429746.1:c.470G>T	ENSP00000402586.1:p.Gly157Val
ENST00000433655.5:c.*305G>T	ENSP00000404902.1:n.*305G>T
NM_001909.4:c.1139G>T	NP_001900.1:p.Gly380Val
NM_001909.5:c.1139G>T MANE Select	NP_001900.1:p.Gly380Val