Canonical Allele Identifier: CA216168716

Gene: CTSD

Linked Data

• ClinVar Variation Id: 527763
• ClinVar RCV Id: RCV000632733
• dbSNP Id: rs929763593
• gnomAD v2: 11-1774844-C-T
• gnomAD v3: 11-1753614-C-T
• gnomAD v4: 11-1753614-C-T
• COSMIC: COSM178241
• MyVariant Identifiers: chr11:g.1774844C>T (hg19) ; chr11:g.1753614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753614C>T , CM000673.2:g.1753614C>T	GRCh38
NC_000011.9:g.1774844C>T , CM000673.1:g.1774844C>T	GRCh37
NC_000011.8:g.1731420C>T	NCBI36
NG_008655.1:g.15379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1128G>A MANE Select	ENSP00000236671.2:p.Pro376=
ENST00000367196.4:c.1023G>A	ENSP00000356164.4:p.Pro341=
ENST00000427721.3:c.553G>A
ENST00000429746.2:c.1023G>A	ENSP00000402586.2:p.Pro341=
ENST00000433655.6:c.*294G>A	ENSP00000404902.1:n.*294G>A
ENST00000438213.6:c.1245G>A	ENSP00000415036.2:p.Pro415=
ENST00000636397.1:c.1071+189G>A	ENSP00000489910.1:n.1071+189G>A
ENST00000636571.1:c.1107G>A	ENSP00000490770.1:p.Pro369=
ENST00000636579.1:c.72+189G>A	ENSP00000490489.1:n.72+189G>A
ENST00000636615.1:c.1071+189G>A	ENSP00000490014.1:n.1071+189G>A
ENST00000636843.1:c.1122G>A	ENSP00000490897.1:p.Pro374=
ENST00000637158.1:n.726G>A
ENST00000637381.2:n.3556G>A
ENST00000637387.1:c.1107G>A	ENSP00000490598.1:p.Pro369=
ENST00000637815.2:c.1110G>A	ENSP00000490344.1:p.Pro370=
ENST00000637915.1:c.1119G>A	ENSP00000490471.1:p.Pro373=
ENST00000637937.1:n.436G>A
ENST00000678991.1:c.*989G>A	ENSP00000503019.1:n.*989G>A
ENST00000236671.6:c.1128G>A	ENSP00000236671.2:p.Pro376=
ENST00000427721.2:c.471+189G>A	ENSP00000415840.2:n.471+189G>A
ENST00000429746.1:c.459G>A	ENSP00000402586.1:p.Pro153=
ENST00000433655.5:c.*294G>A	ENSP00000404902.1:n.*294G>A
NM_001909.4:c.1128G>A	NP_001900.1:p.Pro376=
NM_001909.5:c.1128G>A MANE Select	NP_001900.1:p.Pro376=