Canonical Allele Identifier: CA379092457

Gene: CTSD

Linked Data

• dbSNP Id: rs770542776
• gnomAD v3: 11-1753574-T-C
• gnomAD v4: 11-1753574-T-C
• MyVariant Identifiers: chr11:g.1774804T>C (hg19) ; chr11:g.1753574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753574T>C , CM000673.2:g.1753574T>C	GRCh38
NC_000011.9:g.1774804T>C , CM000673.1:g.1774804T>C	GRCh37
NC_000011.8:g.1731380T>C	NCBI36
NG_008655.1:g.15419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1168A>G MANE Select	ENSP00000236671.2:p.Ile390Val
ENST00000367196.4:c.1063A>G	ENSP00000356164.4:p.Ile355Val
ENST00000427721.3:c.593A>G
ENST00000429746.2:c.1063A>G	ENSP00000402586.2:p.Ile355Val
ENST00000433655.6:c.*334A>G	ENSP00000404902.1:n.*334A>G
ENST00000438213.6:c.1285A>G	ENSP00000415036.2:p.Ile429Val
ENST00000636397.1:c.1071+229A>G	ENSP00000489910.1:n.1071+229A>G
ENST00000636571.1:c.1147A>G	ENSP00000490770.1:p.Ile383Val
ENST00000636579.1:c.72+229A>G	ENSP00000490489.1:n.72+229A>G
ENST00000636615.1:c.1071+229A>G	ENSP00000490014.1:n.1071+229A>G
ENST00000636843.1:c.1162A>G	ENSP00000490897.1:p.Ile388Val
ENST00000637158.1:n.766A>G
ENST00000637381.2:n.3596A>G
ENST00000637387.1:c.1147A>G	ENSP00000490598.1:p.Ile383Val
ENST00000637815.2:c.1150A>G	ENSP00000490344.1:p.Ile384Val
ENST00000637915.1:c.1159A>G	ENSP00000490471.1:p.Ile387Val
ENST00000637937.1:n.476A>G
ENST00000678991.1:c.*1029A>G	ENSP00000503019.1:n.*1029A>G
ENST00000236671.6:c.1168A>G	ENSP00000236671.2:p.Ile390Val
ENST00000427721.2:c.471+229A>G	ENSP00000415840.2:n.471+229A>G
ENST00000429746.1:c.499A>G	ENSP00000402586.1:p.Ile167Val
ENST00000433655.5:c.*334A>G	ENSP00000404902.1:n.*334A>G
NM_001909.4:c.1168A>G	NP_001900.1:p.Ile390Val
NM_001909.5:c.1168A>G MANE Select	NP_001900.1:p.Ile390Val