Canonical Allele Identifier: CA216169277

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1955668
• ClinVar RCV Id: RCV002695560
• dbSNP Id: rs921928234
• MyVariant Identifiers: chr11:g.1775036G>C (hg19) ; chr11:g.1753806G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753806G>C , CM000673.2:g.1753806G>C	GRCh38
NC_000011.9:g.1775036G>C , CM000673.1:g.1775036G>C	GRCh37
NC_000011.8:g.1731612G>C	NCBI36
NG_008655.1:g.15187C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1068C>G MANE Select	ENSP00000236671.2:p.Leu356=
ENST00000367196.4:c.963C>G	ENSP00000356164.4:p.Leu321=
ENST00000427721.3:c.493C>G
ENST00000429746.2:c.963C>G	ENSP00000402586.2:p.Leu321=
ENST00000433655.6:c.*234C>G	ENSP00000404902.1:n.*234C>G
ENST00000438213.6:c.1185C>G	ENSP00000415036.2:p.Leu395=
ENST00000497544.3:n.776C>G
ENST00000636397.1:c.1068C>G	ENSP00000489910.1:p.Leu356=
ENST00000636571.1:c.1047C>G	ENSP00000490770.1:p.Leu349=
ENST00000636579.1:c.69C>G	ENSP00000490489.1:p.Leu23=
ENST00000636615.1:c.1068C>G	ENSP00000490014.1:p.Leu356=
ENST00000636843.1:c.1062C>G	ENSP00000490897.1:p.Leu354=
ENST00000637158.1:n.666C>G
ENST00000637381.2:n.3496C>G
ENST00000637387.1:c.1047C>G	ENSP00000490598.1:p.Leu349=
ENST00000637815.2:c.1050C>G	ENSP00000490344.1:p.Leu350=
ENST00000637915.1:c.1068C>G	ENSP00000490471.1:p.Leu356=
ENST00000637937.1:n.376C>G
ENST00000678991.1:c.*929C>G	ENSP00000503019.1:n.*929C>G
ENST00000236671.6:c.1068C>G	ENSP00000236671.2:p.Leu356=
ENST00000427721.2:c.468C>G	ENSP00000415840.2:p.Leu156=
ENST00000429746.1:c.399C>G	ENSP00000402586.1:p.Leu133=
ENST00000433655.5:c.*234C>G	ENSP00000404902.1:n.*234C>G
ENST00000497544.1:n.776C>G
NM_001909.4:c.1068C>G	NP_001900.1:p.Leu356=
NM_001909.5:c.1068C>G MANE Select	NP_001900.1:p.Leu356=