Canonical Allele Identifier: CA379093295

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775100A>T (hg19) ; chr11:g.1753870A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753870A>T , CM000673.2:g.1753870A>T	GRCh38
NC_000011.9:g.1775100A>T , CM000673.1:g.1775100A>T	GRCh37
NC_000011.8:g.1731676A>T	NCBI36
NG_008655.1:g.15123T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1004T>A MANE Select	ENSP00000236671.2:p.Leu335Gln
ENST00000367196.4:c.899T>A	ENSP00000356164.4:p.Leu300Gln
ENST00000427721.3:c.429T>A
ENST00000429746.2:c.899T>A	ENSP00000402586.2:p.Leu300Gln
ENST00000433655.6:c.*170T>A	ENSP00000404902.1:n.*170T>A
ENST00000438213.6:c.1121T>A	ENSP00000415036.2:p.Leu374Gln
ENST00000497544.3:n.712T>A
ENST00000636397.1:c.1004T>A	ENSP00000489910.1:p.Leu335Gln
ENST00000636571.1:c.983T>A	ENSP00000490770.1:p.Leu328Gln
ENST00000636579.1:c.5T>A	ENSP00000490489.1:p.Leu2Gln
ENST00000636615.1:c.1004T>A	ENSP00000490014.1:p.Leu335Gln
ENST00000636843.1:c.998T>A	ENSP00000490897.1:p.Leu333Gln
ENST00000637158.1:n.602T>A
ENST00000637381.2:n.3432T>A
ENST00000637387.1:c.983T>A	ENSP00000490598.1:p.Leu328Gln
ENST00000637815.2:c.986T>A	ENSP00000490344.1:p.Leu329Gln
ENST00000637915.1:c.1004T>A	ENSP00000490471.1:p.Leu335Gln
ENST00000637937.1:n.312T>A
ENST00000678991.1:c.*865T>A	ENSP00000503019.1:n.*865T>A
ENST00000236671.6:c.1004T>A	ENSP00000236671.2:p.Leu335Gln
ENST00000427721.2:c.404T>A	ENSP00000415840.2:p.Leu135Gln
ENST00000429746.1:c.335T>A	ENSP00000402586.1:p.Leu112Gln
ENST00000433655.5:c.*170T>A	ENSP00000404902.1:n.*170T>A
ENST00000497544.1:n.712T>A
NM_001909.4:c.1004T>A	NP_001900.1:p.Leu335Gln
NM_001909.5:c.1004T>A MANE Select	NP_001900.1:p.Leu335Gln