Canonical Allele Identifier: CA379092668

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774859C>T (hg19) ; chr11:g.1753629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753629C>T , CM000673.2:g.1753629C>T	GRCh38
NC_000011.9:g.1774859C>T , CM000673.1:g.1774859C>T	GRCh37
NC_000011.8:g.1731435C>T	NCBI36
NG_008655.1:g.15364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1113G>A MANE Select	ENSP00000236671.2:p.Met371Ile
ENST00000367196.4:c.1008G>A	ENSP00000356164.4:p.Met336Ile
ENST00000427721.3:c.538G>A
ENST00000429746.2:c.1008G>A	ENSP00000402586.2:p.Met336Ile
ENST00000433655.6:c.*279G>A	ENSP00000404902.1:n.*279G>A
ENST00000438213.6:c.1230G>A	ENSP00000415036.2:p.Met410Ile
ENST00000636397.1:c.1071+174G>A	ENSP00000489910.1:n.1071+174G>A
ENST00000636571.1:c.1092G>A	ENSP00000490770.1:p.Met364Ile
ENST00000636579.1:c.72+174G>A	ENSP00000490489.1:n.72+174G>A
ENST00000636615.1:c.1071+174G>A	ENSP00000490014.1:n.1071+174G>A
ENST00000636843.1:c.1107G>A	ENSP00000490897.1:p.Met369Ile
ENST00000637158.1:n.711G>A
ENST00000637381.2:n.3541G>A
ENST00000637387.1:c.1092G>A	ENSP00000490598.1:p.Met364Ile
ENST00000637815.2:c.1095G>A	ENSP00000490344.1:p.Met365Ile
ENST00000637915.1:c.1104G>A	ENSP00000490471.1:p.Met368Ile
ENST00000637937.1:n.421G>A
ENST00000678991.1:c.*974G>A	ENSP00000503019.1:n.*974G>A
ENST00000236671.6:c.1113G>A	ENSP00000236671.2:p.Met371Ile
ENST00000427721.2:c.471+174G>A	ENSP00000415840.2:n.471+174G>A
ENST00000429746.1:c.444G>A	ENSP00000402586.1:p.Met148Ile
ENST00000433655.5:c.*279G>A	ENSP00000404902.1:n.*279G>A
NM_001909.4:c.1113G>A	NP_001900.1:p.Met371Ile
NM_001909.5:c.1113G>A MANE Select	NP_001900.1:p.Met371Ile