Canonical Allele Identifier: CA379092738

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774879G>T (hg19) ; chr11:g.1753649G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753649G>T , CM000673.2:g.1753649G>T	GRCh38
NC_000011.9:g.1774879G>T , CM000673.1:g.1774879G>T	GRCh37
NC_000011.8:g.1731455G>T	NCBI36
NG_008655.1:g.15344C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1093C>A MANE Select	ENSP00000236671.2:p.Leu365Ile
ENST00000367196.4:c.988C>A	ENSP00000356164.4:p.Leu330Ile
ENST00000427721.3:c.518C>A
ENST00000429746.2:c.988C>A	ENSP00000402586.2:p.Leu330Ile
ENST00000433655.6:c.*259C>A	ENSP00000404902.1:n.*259C>A
ENST00000438213.6:c.1210C>A	ENSP00000415036.2:p.Leu404Ile
ENST00000636397.1:c.1071+154C>A	ENSP00000489910.1:n.1071+154C>A
ENST00000636571.1:c.1072C>A	ENSP00000490770.1:p.Leu358Ile
ENST00000636579.1:c.72+154C>A	ENSP00000490489.1:n.72+154C>A
ENST00000636615.1:c.1071+154C>A	ENSP00000490014.1:n.1071+154C>A
ENST00000636843.1:c.1087C>A	ENSP00000490897.1:p.Leu363Ile
ENST00000637158.1:n.691C>A
ENST00000637381.2:n.3521C>A
ENST00000637387.1:c.1072C>A	ENSP00000490598.1:p.Leu358Ile
ENST00000637815.2:c.1075C>A	ENSP00000490344.1:p.Leu359Ile
ENST00000637915.1:c.1084C>A	ENSP00000490471.1:p.Leu362Ile
ENST00000637937.1:n.401C>A
ENST00000678991.1:c.*954C>A	ENSP00000503019.1:n.*954C>A
ENST00000236671.6:c.1093C>A	ENSP00000236671.2:p.Leu365Ile
ENST00000427721.2:c.471+154C>A	ENSP00000415840.2:n.471+154C>A
ENST00000429746.1:c.424C>A	ENSP00000402586.1:p.Leu142Ile
ENST00000433655.5:c.*259C>A	ENSP00000404902.1:n.*259C>A
NM_001909.4:c.1093C>A	NP_001900.1:p.Leu365Ile
NM_001909.5:c.1093C>A MANE Select	NP_001900.1:p.Leu365Ile