Canonical Allele Identifier: CA379093257

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2098694
• ClinVar RCV Id: RCV003019257
• MyVariant Identifiers: chr11:g.1775092T>G (hg19) ; chr11:g.1753862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753862T>G , CM000673.2:g.1753862T>G	GRCh38
NC_000011.9:g.1775092T>G , CM000673.1:g.1775092T>G	GRCh37
NC_000011.8:g.1731668T>G	NCBI36
NG_008655.1:g.15131A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1012A>C MANE Select	ENSP00000236671.2:p.Ile338Leu
ENST00000367196.4:c.907A>C	ENSP00000356164.4:p.Ile303Leu
ENST00000427721.3:c.437A>C
ENST00000429746.2:c.907A>C	ENSP00000402586.2:p.Ile303Leu
ENST00000433655.6:c.*178A>C	ENSP00000404902.1:n.*178A>C
ENST00000438213.6:c.1129A>C	ENSP00000415036.2:p.Ile377Leu
ENST00000497544.3:n.720A>C
ENST00000636397.1:c.1012A>C	ENSP00000489910.1:p.Ile338Leu
ENST00000636571.1:c.991A>C	ENSP00000490770.1:p.Ile331Leu
ENST00000636579.1:c.13A>C	ENSP00000490489.1:p.Ile5Leu
ENST00000636615.1:c.1012A>C	ENSP00000490014.1:p.Ile338Leu
ENST00000636843.1:c.1006A>C	ENSP00000490897.1:p.Ile336Leu
ENST00000637158.1:n.610A>C
ENST00000637381.2:n.3440A>C
ENST00000637387.1:c.991A>C	ENSP00000490598.1:p.Ile331Leu
ENST00000637815.2:c.994A>C	ENSP00000490344.1:p.Ile332Leu
ENST00000637915.1:c.1012A>C	ENSP00000490471.1:p.Ile338Leu
ENST00000637937.1:n.320A>C
ENST00000678991.1:c.*873A>C	ENSP00000503019.1:n.*873A>C
ENST00000236671.6:c.1012A>C	ENSP00000236671.2:p.Ile338Leu
ENST00000427721.2:c.412A>C	ENSP00000415840.2:p.Ile138Leu
ENST00000429746.1:c.343A>C	ENSP00000402586.1:p.Ile115Leu
ENST00000433655.5:c.*178A>C	ENSP00000404902.1:n.*178A>C
ENST00000497544.1:n.720A>C
NM_001909.4:c.1012A>C	NP_001900.1:p.Ile338Leu
NM_001909.5:c.1012A>C MANE Select	NP_001900.1:p.Ile338Leu