Canonical Allele Identifier: CA379092541

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774827A>C (hg19) ; chr11:g.1753597A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753597A>C , CM000673.2:g.1753597A>C	GRCh38
NC_000011.9:g.1774827A>C , CM000673.1:g.1774827A>C	GRCh37
NC_000011.8:g.1731403A>C	NCBI36
NG_008655.1:g.15396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1145T>G MANE Select	ENSP00000236671.2:p.Leu382Arg
ENST00000367196.4:c.1040T>G	ENSP00000356164.4:p.Leu347Arg
ENST00000427721.3:c.570T>G
ENST00000429746.2:c.1040T>G	ENSP00000402586.2:p.Leu347Arg
ENST00000433655.6:c.*311T>G	ENSP00000404902.1:n.*311T>G
ENST00000438213.6:c.1262T>G	ENSP00000415036.2:p.Leu421Arg
ENST00000636397.1:c.1071+206T>G	ENSP00000489910.1:n.1071+206T>G
ENST00000636571.1:c.1124T>G	ENSP00000490770.1:p.Leu375Arg
ENST00000636579.1:c.72+206T>G	ENSP00000490489.1:n.72+206T>G
ENST00000636615.1:c.1071+206T>G	ENSP00000490014.1:n.1071+206T>G
ENST00000636843.1:c.1139T>G	ENSP00000490897.1:p.Leu380Arg
ENST00000637158.1:n.743T>G
ENST00000637381.2:n.3573T>G
ENST00000637387.1:c.1124T>G	ENSP00000490598.1:p.Leu375Arg
ENST00000637815.2:c.1127T>G	ENSP00000490344.1:p.Leu376Arg
ENST00000637915.1:c.1136T>G	ENSP00000490471.1:p.Leu379Arg
ENST00000637937.1:n.453T>G
ENST00000678991.1:c.*1006T>G	ENSP00000503019.1:n.*1006T>G
ENST00000236671.6:c.1145T>G	ENSP00000236671.2:p.Leu382Arg
ENST00000427721.2:c.471+206T>G	ENSP00000415840.2:n.471+206T>G
ENST00000429746.1:c.476T>G	ENSP00000402586.1:p.Leu159Arg
ENST00000433655.5:c.*311T>G	ENSP00000404902.1:n.*311T>G
NM_001909.4:c.1145T>G	NP_001900.1:p.Leu382Arg
NM_001909.5:c.1145T>G MANE Select	NP_001900.1:p.Leu382Arg