Canonical Allele Identifier: CA472141278

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1110670
• ClinVar RCV Id: RCV001436978
• dbSNP Id: rs2133657544
• MyVariant Identifiers: chr11:g.1775057C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753827C>T , CM000673.2:g.1753827C>T	GRCh38
NC_000011.9:g.1775057C>T , CM000673.1:g.1775057C>T	GRCh37
NC_000011.8:g.1731633C>T	NCBI36
NG_008655.1:g.15166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1047G>A MANE Select	ENSP00000236671.2:p.Leu349=
ENST00000367196.4:c.942G>A	ENSP00000356164.4:p.Leu314=
ENST00000427721.3:c.472G>A
ENST00000429746.2:c.942G>A	ENSP00000402586.2:p.Leu314=
ENST00000433655.6:c.*213G>A	ENSP00000404902.1:n.*213G>A
ENST00000438213.6:c.1164G>A	ENSP00000415036.2:p.Leu388=
ENST00000497544.3:n.755G>A
ENST00000636397.1:c.1047G>A	ENSP00000489910.1:p.Leu349=
ENST00000636571.1:c.1026G>A	ENSP00000490770.1:p.Leu342=
ENST00000636579.1:c.48G>A	ENSP00000490489.1:p.Leu16=
ENST00000636615.1:c.1047G>A	ENSP00000490014.1:p.Leu349=
ENST00000636843.1:c.1041G>A	ENSP00000490897.1:p.Leu347=
ENST00000637158.1:n.645G>A
ENST00000637381.2:n.3475G>A
ENST00000637387.1:c.1026G>A	ENSP00000490598.1:p.Leu342=
ENST00000637815.2:c.1029G>A	ENSP00000490344.1:p.Leu343=
ENST00000637915.1:c.1047G>A	ENSP00000490471.1:p.Leu349=
ENST00000637937.1:n.355G>A
ENST00000678991.1:c.*908G>A	ENSP00000503019.1:n.*908G>A
ENST00000236671.6:c.1047G>A	ENSP00000236671.2:p.Leu349=
ENST00000427721.2:c.447G>A	ENSP00000415840.2:p.Leu149=
ENST00000429746.1:c.378G>A	ENSP00000402586.1:p.Leu126=
ENST00000433655.5:c.*213G>A	ENSP00000404902.1:n.*213G>A
ENST00000497544.1:n.755G>A
NM_001909.4:c.1047G>A	NP_001900.1:p.Leu349=
NM_001909.5:c.1047G>A MANE Select	NP_001900.1:p.Leu349=