Canonical Allele Identifier: CA379092527

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753593-C-A
• COSMIC: COSM6068123
• MyVariant Identifiers: chr11:g.1774823C>A (hg19) ; chr11:g.1753593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753593C>A , CM000673.2:g.1753593C>A	GRCh38
NC_000011.9:g.1774823C>A , CM000673.1:g.1774823C>A	GRCh37
NC_000011.8:g.1731399C>A	NCBI36
NG_008655.1:g.15400G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1149G>T MANE Select	ENSP00000236671.2:p.Trp383Cys
ENST00000367196.4:c.1044G>T	ENSP00000356164.4:p.Trp348Cys
ENST00000427721.3:c.574G>T
ENST00000429746.2:c.1044G>T	ENSP00000402586.2:p.Trp348Cys
ENST00000433655.6:c.*315G>T	ENSP00000404902.1:n.*315G>T
ENST00000438213.6:c.1266G>T	ENSP00000415036.2:p.Trp422Cys
ENST00000636397.1:c.1071+210G>T	ENSP00000489910.1:n.1071+210G>T
ENST00000636571.1:c.1128G>T	ENSP00000490770.1:p.Trp376Cys
ENST00000636579.1:c.72+210G>T	ENSP00000490489.1:n.72+210G>T
ENST00000636615.1:c.1071+210G>T	ENSP00000490014.1:n.1071+210G>T
ENST00000636843.1:c.1143G>T	ENSP00000490897.1:p.Trp381Cys
ENST00000637158.1:n.747G>T
ENST00000637381.2:n.3577G>T
ENST00000637387.1:c.1128G>T	ENSP00000490598.1:p.Trp376Cys
ENST00000637815.2:c.1131G>T	ENSP00000490344.1:p.Trp377Cys
ENST00000637915.1:c.1140G>T	ENSP00000490471.1:p.Trp380Cys
ENST00000637937.1:n.457G>T
ENST00000678991.1:c.*1010G>T	ENSP00000503019.1:n.*1010G>T
ENST00000236671.6:c.1149G>T	ENSP00000236671.2:p.Trp383Cys
ENST00000427721.2:c.471+210G>T	ENSP00000415840.2:n.471+210G>T
ENST00000429746.1:c.480G>T	ENSP00000402586.1:p.Trp160Cys
ENST00000433655.5:c.*315G>T	ENSP00000404902.1:n.*315G>T
NM_001909.4:c.1149G>T	NP_001900.1:p.Trp383Cys
NM_001909.5:c.1149G>T MANE Select	NP_001900.1:p.Trp383Cys