Canonical Allele Identifier: CA379092479

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774810C>A (hg19) ; chr11:g.1753580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753580C>A , CM000673.2:g.1753580C>A	GRCh38
NC_000011.9:g.1774810C>A , CM000673.1:g.1774810C>A	GRCh37
NC_000011.8:g.1731386C>A	NCBI36
NG_008655.1:g.15413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1162G>T MANE Select	ENSP00000236671.2:p.Val388Phe
ENST00000367196.4:c.1057G>T	ENSP00000356164.4:p.Val353Phe
ENST00000427721.3:c.587G>T
ENST00000429746.2:c.1057G>T	ENSP00000402586.2:p.Val353Phe
ENST00000433655.6:c.*328G>T	ENSP00000404902.1:n.*328G>T
ENST00000438213.6:c.1279G>T	ENSP00000415036.2:p.Val427Phe
ENST00000636397.1:c.1071+223G>T	ENSP00000489910.1:n.1071+223G>T
ENST00000636571.1:c.1141G>T	ENSP00000490770.1:p.Val381Phe
ENST00000636579.1:c.72+223G>T	ENSP00000490489.1:n.72+223G>T
ENST00000636615.1:c.1071+223G>T	ENSP00000490014.1:n.1071+223G>T
ENST00000636843.1:c.1156G>T	ENSP00000490897.1:p.Val386Phe
ENST00000637158.1:n.760G>T
ENST00000637381.2:n.3590G>T
ENST00000637387.1:c.1141G>T	ENSP00000490598.1:p.Val381Phe
ENST00000637815.2:c.1144G>T	ENSP00000490344.1:p.Val382Phe
ENST00000637915.1:c.1153G>T	ENSP00000490471.1:p.Val385Phe
ENST00000637937.1:n.470G>T
ENST00000678991.1:c.*1023G>T	ENSP00000503019.1:n.*1023G>T
ENST00000236671.6:c.1162G>T	ENSP00000236671.2:p.Val388Phe
ENST00000427721.2:c.471+223G>T	ENSP00000415840.2:n.471+223G>T
ENST00000429746.1:c.493G>T	ENSP00000402586.1:p.Val165Phe
ENST00000433655.5:c.*328G>T	ENSP00000404902.1:n.*328G>T
NM_001909.4:c.1162G>T	NP_001900.1:p.Val388Phe
NM_001909.5:c.1162G>T MANE Select	NP_001900.1:p.Val388Phe