Canonical Allele Identifier: CA379092606

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1897764
• ClinVar RCV Id: RCV002569849
• dbSNP Id: rs1412376424
• gnomAD v3: 11-1753613-G-T
• gnomAD v4: 11-1753613-G-T
• COSMIC: COSM4636559
• MyVariant Identifiers: chr11:g.1774843G>T (hg19) ; chr11:g.1753613G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753613G>T , CM000673.2:g.1753613G>T	GRCh38
NC_000011.9:g.1774843G>T , CM000673.1:g.1774843G>T	GRCh37
NC_000011.8:g.1731419G>T	NCBI36
NG_008655.1:g.15380C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1129C>A MANE Select	ENSP00000236671.2:p.Pro377Thr
ENST00000367196.4:c.1024C>A	ENSP00000356164.4:p.Pro342Thr
ENST00000427721.3:c.554C>A
ENST00000429746.2:c.1024C>A	ENSP00000402586.2:p.Pro342Thr
ENST00000433655.6:c.*295C>A	ENSP00000404902.1:n.*295C>A
ENST00000438213.6:c.1246C>A	ENSP00000415036.2:p.Pro416Thr
ENST00000636397.1:c.1071+190C>A	ENSP00000489910.1:n.1071+190C>A
ENST00000636571.1:c.1108C>A	ENSP00000490770.1:p.Pro370Thr
ENST00000636579.1:c.72+190C>A	ENSP00000490489.1:n.72+190C>A
ENST00000636615.1:c.1071+190C>A	ENSP00000490014.1:n.1071+190C>A
ENST00000636843.1:c.1123C>A	ENSP00000490897.1:p.Pro375Thr
ENST00000637158.1:n.727C>A
ENST00000637381.2:n.3557C>A
ENST00000637387.1:c.1108C>A	ENSP00000490598.1:p.Pro370Thr
ENST00000637815.2:c.1111C>A	ENSP00000490344.1:p.Pro371Thr
ENST00000637915.1:c.1120C>A	ENSP00000490471.1:p.Pro374Thr
ENST00000637937.1:n.437C>A
ENST00000678991.1:c.*990C>A	ENSP00000503019.1:n.*990C>A
ENST00000236671.6:c.1129C>A	ENSP00000236671.2:p.Pro377Thr
ENST00000427721.2:c.471+190C>A	ENSP00000415840.2:n.471+190C>A
ENST00000429746.1:c.460C>A	ENSP00000402586.1:p.Pro154Thr
ENST00000433655.5:c.*295C>A	ENSP00000404902.1:n.*295C>A
NM_001909.4:c.1129C>A	NP_001900.1:p.Pro377Thr
NM_001909.5:c.1129C>A MANE Select	NP_001900.1:p.Pro377Thr