Canonical Allele Identifier: CA379092513

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774819G>C (hg19) ; chr11:g.1753589G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753589G>C , CM000673.2:g.1753589G>C	GRCh38
NC_000011.9:g.1774819G>C , CM000673.1:g.1774819G>C	GRCh37
NC_000011.8:g.1731395G>C	NCBI36
NG_008655.1:g.15404C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1153C>G MANE Select	ENSP00000236671.2:p.Leu385Val
ENST00000367196.4:c.1048C>G	ENSP00000356164.4:p.Leu350Val
ENST00000427721.3:c.578C>G
ENST00000429746.2:c.1048C>G	ENSP00000402586.2:p.Leu350Val
ENST00000433655.6:c.*319C>G	ENSP00000404902.1:n.*319C>G
ENST00000438213.6:c.1270C>G	ENSP00000415036.2:p.Leu424Val
ENST00000636397.1:c.1071+214C>G	ENSP00000489910.1:n.1071+214C>G
ENST00000636571.1:c.1132C>G	ENSP00000490770.1:p.Leu378Val
ENST00000636579.1:c.72+214C>G	ENSP00000490489.1:n.72+214C>G
ENST00000636615.1:c.1071+214C>G	ENSP00000490014.1:n.1071+214C>G
ENST00000636843.1:c.1147C>G	ENSP00000490897.1:p.Leu383Val
ENST00000637158.1:n.751C>G
ENST00000637381.2:n.3581C>G
ENST00000637387.1:c.1132C>G	ENSP00000490598.1:p.Leu378Val
ENST00000637815.2:c.1135C>G	ENSP00000490344.1:p.Leu379Val
ENST00000637915.1:c.1144C>G	ENSP00000490471.1:p.Leu382Val
ENST00000637937.1:n.461C>G
ENST00000678991.1:c.*1014C>G	ENSP00000503019.1:n.*1014C>G
ENST00000236671.6:c.1153C>G	ENSP00000236671.2:p.Leu385Val
ENST00000427721.2:c.471+214C>G	ENSP00000415840.2:n.471+214C>G
ENST00000429746.1:c.484C>G	ENSP00000402586.1:p.Leu162Val
ENST00000433655.5:c.*319C>G	ENSP00000404902.1:n.*319C>G
NM_001909.4:c.1153C>G	NP_001900.1:p.Leu385Val
NM_001909.5:c.1153C>G MANE Select	NP_001900.1:p.Leu385Val