Canonical Allele Identifier: CA379095912

Gene: CTSD

Linked Data

• COSMIC: COSM1196598
• MyVariant Identifiers: chr11:g.1778597G>C (hg19) ; chr11:g.1757367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757367G>C , CM000673.2:g.1757367G>C	GRCh38
NC_000011.9:g.1778597G>C , CM000673.1:g.1778597G>C	GRCh37
NC_000011.8:g.1735173G>C	NCBI36
NG_008655.1:g.11626C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.661C>G MANE Select	ENSP00000236671.2:p.Gln221Glu
ENST00000367196.4:c.556C>G	ENSP00000356164.4:p.Gln186Glu
ENST00000427721.3:c.86C>G
ENST00000429746.2:c.556C>G	ENSP00000402586.2:p.Gln186Glu
ENST00000433655.6:c.661C>G	ENSP00000404902.1:p.Gln221Glu
ENST00000438213.6:c.661C>G	ENSP00000415036.2:p.Gln221Glu
ENST00000636397.1:c.661C>G	ENSP00000489910.1:p.Gln221Glu
ENST00000636571.1:c.640C>G	ENSP00000490770.1:p.Gln214Glu
ENST00000636615.1:c.661C>G	ENSP00000490014.1:p.Gln221Glu
ENST00000636843.1:c.655C>G	ENSP00000490897.1:p.Gln219Glu
ENST00000637158.1:n.259C>G
ENST00000637381.2:n.3089C>G
ENST00000637387.1:c.661C>G	ENSP00000490598.1:p.Gln221Glu
ENST00000637815.2:c.661C>G	ENSP00000490344.1:p.Gln221Glu
ENST00000637915.1:c.661C>G	ENSP00000490471.1:p.Gln221Glu
ENST00000677300.1:n.1056C>G
ENST00000678991.1:c.*522C>G	ENSP00000503019.1:n.*522C>G
ENST00000236671.6:c.661C>G	ENSP00000236671.2:p.Gln221Glu
ENST00000367196.3:c.556C>G	ENSP00000356164.3:p.Gln186Glu
ENST00000427721.2:c.61C>G	ENSP00000415840.2:p.Gln21Glu
ENST00000433655.5:c.661C>G	ENSP00000404902.1:p.Gln221Glu
ENST00000438213.5:c.616C>G	ENSP00000415036.1:p.Gln206Glu
NM_001909.4:c.661C>G	NP_001900.1:p.Gln221Glu
NM_001909.5:c.661C>G MANE Select	NP_001900.1:p.Gln221Glu