Canonical Allele Identifier: CA379092546

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774828G>C (hg19) ; chr11:g.1753598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753598G>C , CM000673.2:g.1753598G>C	GRCh38
NC_000011.9:g.1774828G>C , CM000673.1:g.1774828G>C	GRCh37
NC_000011.8:g.1731404G>C	NCBI36
NG_008655.1:g.15395C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1144C>G MANE Select	ENSP00000236671.2:p.Leu382Val
ENST00000367196.4:c.1039C>G	ENSP00000356164.4:p.Leu347Val
ENST00000427721.3:c.569C>G
ENST00000429746.2:c.1039C>G	ENSP00000402586.2:p.Leu347Val
ENST00000433655.6:c.*310C>G	ENSP00000404902.1:n.*310C>G
ENST00000438213.6:c.1261C>G	ENSP00000415036.2:p.Leu421Val
ENST00000636397.1:c.1071+205C>G	ENSP00000489910.1:n.1071+205C>G
ENST00000636571.1:c.1123C>G	ENSP00000490770.1:p.Leu375Val
ENST00000636579.1:c.72+205C>G	ENSP00000490489.1:n.72+205C>G
ENST00000636615.1:c.1071+205C>G	ENSP00000490014.1:n.1071+205C>G
ENST00000636843.1:c.1138C>G	ENSP00000490897.1:p.Leu380Val
ENST00000637158.1:n.742C>G
ENST00000637381.2:n.3572C>G
ENST00000637387.1:c.1123C>G	ENSP00000490598.1:p.Leu375Val
ENST00000637815.2:c.1126C>G	ENSP00000490344.1:p.Leu376Val
ENST00000637915.1:c.1135C>G	ENSP00000490471.1:p.Leu379Val
ENST00000637937.1:n.452C>G
ENST00000678991.1:c.*1005C>G	ENSP00000503019.1:n.*1005C>G
ENST00000236671.6:c.1144C>G	ENSP00000236671.2:p.Leu382Val
ENST00000427721.2:c.471+205C>G	ENSP00000415840.2:n.471+205C>G
ENST00000429746.1:c.475C>G	ENSP00000402586.1:p.Leu159Val
ENST00000433655.5:c.*310C>G	ENSP00000404902.1:n.*310C>G
NM_001909.4:c.1144C>G	NP_001900.1:p.Leu382Val
NM_001909.5:c.1144C>G MANE Select	NP_001900.1:p.Leu382Val