Canonical Allele Identifier: CA379092448

Gene: CTSD

Linked Data

• ClinVar Variation Id: 590122
• ClinVar RCV Id: RCV002318303
• dbSNP Id: rs370985523
• gnomAD v2: 11-1774802-G-C
• gnomAD v4: 11-1753572-G-C
• MyVariant Identifiers: chr11:g.1774802G>C (hg19) ; chr11:g.1753572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753572G>C , CM000673.2:g.1753572G>C	GRCh38
NC_000011.9:g.1774802G>C , CM000673.1:g.1774802G>C	GRCh37
NC_000011.8:g.1731378G>C	NCBI36
NG_008655.1:g.15421C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1170C>G MANE Select	ENSP00000236671.2:p.Ile390Met
ENST00000367196.4:c.1065C>G	ENSP00000356164.4:p.Ile355Met
ENST00000427721.3:c.595C>G
ENST00000429746.2:c.1065C>G	ENSP00000402586.2:p.Ile355Met
ENST00000433655.6:c.*336C>G	ENSP00000404902.1:n.*336C>G
ENST00000438213.6:c.1287C>G	ENSP00000415036.2:p.Ile429Met
ENST00000636397.1:c.1071+231C>G	ENSP00000489910.1:n.1071+231C>G
ENST00000636571.1:c.1149C>G	ENSP00000490770.1:p.Ile383Met
ENST00000636579.1:c.72+231C>G	ENSP00000490489.1:n.72+231C>G
ENST00000636615.1:c.1071+231C>G	ENSP00000490014.1:n.1071+231C>G
ENST00000636843.1:c.1164C>G	ENSP00000490897.1:p.Ile388Met
ENST00000637158.1:n.768C>G
ENST00000637381.2:n.3598C>G
ENST00000637387.1:c.1149C>G	ENSP00000490598.1:p.Ile383Met
ENST00000637815.2:c.1152C>G	ENSP00000490344.1:p.Ile384Met
ENST00000637915.1:c.1161C>G	ENSP00000490471.1:p.Ile387Met
ENST00000637937.1:n.478C>G
ENST00000678991.1:c.*1031C>G	ENSP00000503019.1:n.*1031C>G
ENST00000236671.6:c.1170C>G	ENSP00000236671.2:p.Ile390Met
ENST00000427721.2:c.471+231C>G	ENSP00000415840.2:n.471+231C>G
ENST00000429746.1:c.501C>G	ENSP00000402586.1:p.Ile167Met
ENST00000433655.5:c.*336C>G	ENSP00000404902.1:n.*336C>G
NM_001909.4:c.1170C>G	NP_001900.1:p.Ile390Met
NM_001909.5:c.1170C>G MANE Select	NP_001900.1:p.Ile390Met