Canonical Allele Identifier: CA379092717

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774873G>C (hg19) ; chr11:g.1753643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753643G>C , CM000673.2:g.1753643G>C	GRCh38
NC_000011.9:g.1774873G>C , CM000673.1:g.1774873G>C	GRCh37
NC_000011.8:g.1731449G>C	NCBI36
NG_008655.1:g.15350C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1099C>G MANE Select	ENSP00000236671.2:p.Leu367Val
ENST00000367196.4:c.994C>G	ENSP00000356164.4:p.Leu332Val
ENST00000427721.3:c.524C>G
ENST00000429746.2:c.994C>G	ENSP00000402586.2:p.Leu332Val
ENST00000433655.6:c.*265C>G	ENSP00000404902.1:n.*265C>G
ENST00000438213.6:c.1216C>G	ENSP00000415036.2:p.Leu406Val
ENST00000636397.1:c.1071+160C>G	ENSP00000489910.1:n.1071+160C>G
ENST00000636571.1:c.1078C>G	ENSP00000490770.1:p.Leu360Val
ENST00000636579.1:c.72+160C>G	ENSP00000490489.1:n.72+160C>G
ENST00000636615.1:c.1071+160C>G	ENSP00000490014.1:n.1071+160C>G
ENST00000636843.1:c.1093C>G	ENSP00000490897.1:p.Leu365Val
ENST00000637158.1:n.697C>G
ENST00000637381.2:n.3527C>G
ENST00000637387.1:c.1078C>G	ENSP00000490598.1:p.Leu360Val
ENST00000637815.2:c.1081C>G	ENSP00000490344.1:p.Leu361Val
ENST00000637915.1:c.1090C>G	ENSP00000490471.1:p.Leu364Val
ENST00000637937.1:n.407C>G
ENST00000678991.1:c.*960C>G	ENSP00000503019.1:n.*960C>G
ENST00000236671.6:c.1099C>G	ENSP00000236671.2:p.Leu367Val
ENST00000427721.2:c.471+160C>G	ENSP00000415840.2:n.471+160C>G
ENST00000429746.1:c.430C>G	ENSP00000402586.1:p.Leu144Val
ENST00000433655.5:c.*265C>G	ENSP00000404902.1:n.*265C>G
NM_001909.4:c.1099C>G	NP_001900.1:p.Leu367Val
NM_001909.5:c.1099C>G MANE Select	NP_001900.1:p.Leu367Val