Canonical Allele Identifier: CA379092400

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774781A>C (hg19) ; chr11:g.1753551A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753551A>C , CM000673.2:g.1753551A>C	GRCh38
NC_000011.9:g.1774781A>C , CM000673.1:g.1774781A>C	GRCh37
NC_000011.8:g.1731357A>C	NCBI36
NG_008655.1:g.15442T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1191T>G MANE Select	ENSP00000236671.2:p.Phe397Leu
ENST00000367196.4:c.1086T>G	ENSP00000356164.4:p.Phe362Leu
ENST00000427721.3:c.616T>G
ENST00000429746.2:c.1086T>G	ENSP00000402586.2:p.Phe362Leu
ENST00000433655.6:c.*357T>G	ENSP00000404902.1:n.*357T>G
ENST00000438213.6:c.1308T>G	ENSP00000415036.2:p.Phe436Leu
ENST00000636397.1:c.1071+252T>G	ENSP00000489910.1:n.1071+252T>G
ENST00000636571.1:c.1170T>G	ENSP00000490770.1:p.Phe390Leu
ENST00000636579.1:c.72+252T>G	ENSP00000490489.1:n.72+252T>G
ENST00000636615.1:c.1071+252T>G	ENSP00000490014.1:n.1071+252T>G
ENST00000636843.1:c.1185T>G	ENSP00000490897.1:p.Phe395Leu
ENST00000637158.1:n.789T>G
ENST00000637381.2:n.3619T>G
ENST00000637387.1:c.1170T>G	ENSP00000490598.1:p.Phe390Leu
ENST00000637815.2:c.1173T>G	ENSP00000490344.1:p.Phe391Leu
ENST00000637915.1:c.1182T>G	ENSP00000490471.1:p.Phe394Leu
ENST00000637937.1:n.499T>G
ENST00000678991.1:c.*1052T>G	ENSP00000503019.1:n.*1052T>G
ENST00000236671.6:c.1191T>G	ENSP00000236671.2:p.Phe397Leu
ENST00000427721.2:c.471+252T>G	ENSP00000415840.2:n.471+252T>G
ENST00000429746.1:c.522T>G	ENSP00000402586.1:p.Phe174Leu
ENST00000433655.5:c.*357T>G	ENSP00000404902.1:n.*357T>G
NM_001909.4:c.1191T>G	NP_001900.1:p.Phe397Leu
NM_001909.5:c.1191T>G MANE Select	NP_001900.1:p.Phe397Leu