Canonical Allele Identifier: CA379092673

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2164644
• ClinVar RCV Id: RCV003088139
• dbSNP Id: rs1452124479
• gnomAD v2: 11-1774861-T-C
• gnomAD v4: 11-1753631-T-C
• MyVariant Identifiers: chr11:g.1774861T>C (hg19) ; chr11:g.1753631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753631T>C , CM000673.2:g.1753631T>C	GRCh38
NC_000011.9:g.1774861T>C , CM000673.1:g.1774861T>C	GRCh37
NC_000011.8:g.1731437T>C	NCBI36
NG_008655.1:g.15362A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1111A>G MANE Select	ENSP00000236671.2:p.Met371Val
ENST00000367196.4:c.1006A>G	ENSP00000356164.4:p.Met336Val
ENST00000427721.3:c.536A>G
ENST00000429746.2:c.1006A>G	ENSP00000402586.2:p.Met336Val
ENST00000433655.6:c.*277A>G	ENSP00000404902.1:n.*277A>G
ENST00000438213.6:c.1228A>G	ENSP00000415036.2:p.Met410Val
ENST00000636397.1:c.1071+172A>G	ENSP00000489910.1:n.1071+172A>G
ENST00000636571.1:c.1090A>G	ENSP00000490770.1:p.Met364Val
ENST00000636579.1:c.72+172A>G	ENSP00000490489.1:n.72+172A>G
ENST00000636615.1:c.1071+172A>G	ENSP00000490014.1:n.1071+172A>G
ENST00000636843.1:c.1105A>G	ENSP00000490897.1:p.Met369Val
ENST00000637158.1:n.709A>G
ENST00000637381.2:n.3539A>G
ENST00000637387.1:c.1090A>G	ENSP00000490598.1:p.Met364Val
ENST00000637815.2:c.1093A>G	ENSP00000490344.1:p.Met365Val
ENST00000637915.1:c.1102A>G	ENSP00000490471.1:p.Met368Val
ENST00000637937.1:n.419A>G
ENST00000678991.1:c.*972A>G	ENSP00000503019.1:n.*972A>G
ENST00000236671.6:c.1111A>G	ENSP00000236671.2:p.Met371Val
ENST00000427721.2:c.471+172A>G	ENSP00000415840.2:n.471+172A>G
ENST00000429746.1:c.442A>G	ENSP00000402586.1:p.Met148Val
ENST00000433655.5:c.*277A>G	ENSP00000404902.1:n.*277A>G
NM_001909.4:c.1111A>G	NP_001900.1:p.Met371Val
NM_001909.5:c.1111A>G MANE Select	NP_001900.1:p.Met371Val