Canonical Allele Identifier: CA379093742

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775265G>C (hg19) ; chr11:g.1754035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754035G>C , CM000673.2:g.1754035G>C	GRCh38
NC_000011.9:g.1775265G>C , CM000673.1:g.1775265G>C	GRCh37
NC_000011.8:g.1731841G>C	NCBI36
NG_008655.1:g.14958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.931C>G MANE Select	ENSP00000236671.2:p.Leu311Val
ENST00000367196.4:c.826C>G	ENSP00000356164.4:p.Leu276Val
ENST00000427721.3:c.356C>G
ENST00000429746.2:c.826C>G	ENSP00000402586.2:p.Leu276Val
ENST00000433655.6:c.*97C>G	ENSP00000404902.1:n.*97C>G
ENST00000438213.6:c.1048C>G	ENSP00000415036.2:p.Leu350Val
ENST00000497544.3:n.547C>G
ENST00000636397.1:c.931C>G	ENSP00000489910.1:p.Leu311Val
ENST00000636571.1:c.910C>G	ENSP00000490770.1:p.Leu304Val
ENST00000636615.1:c.931C>G	ENSP00000490014.1:p.Leu311Val
ENST00000636843.1:c.925C>G	ENSP00000490897.1:p.Leu309Val
ENST00000637158.1:n.529C>G
ENST00000637381.2:n.3359C>G
ENST00000637387.1:c.931C>G	ENSP00000490598.1:p.Leu311Val
ENST00000637815.2:c.913C>G	ENSP00000490344.1:p.Leu305Val
ENST00000637915.1:c.931C>G	ENSP00000490471.1:p.Leu311Val
ENST00000637937.1:n.239C>G
ENST00000678991.1:c.*792C>G	ENSP00000503019.1:n.*792C>G
ENST00000236671.6:c.931C>G	ENSP00000236671.2:p.Leu311Val
ENST00000427721.2:c.331C>G	ENSP00000415840.2:p.Leu111Val
ENST00000429746.1:c.262C>G	ENSP00000402586.1:p.Leu88Val
ENST00000433655.5:c.*97C>G	ENSP00000404902.1:n.*97C>G
ENST00000438213.5:c.886C>G	ENSP00000415036.1:p.Leu296Val
ENST00000497544.1:n.547C>G
NM_001909.4:c.931C>G	NP_001900.1:p.Leu311Val
NM_001909.5:c.931C>G MANE Select	NP_001900.1:p.Leu311Val