Canonical Allele Identifier: CA379092411

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774786C>A (hg19) ; chr11:g.1753556C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753556C>A , CM000673.2:g.1753556C>A	GRCh38
NC_000011.9:g.1774786C>A , CM000673.1:g.1774786C>A	GRCh37
NC_000011.8:g.1731362C>A	NCBI36
NG_008655.1:g.15437G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1186G>T MANE Select	ENSP00000236671.2:p.Val396Leu
ENST00000367196.4:c.1081G>T	ENSP00000356164.4:p.Val361Leu
ENST00000427721.3:c.611G>T
ENST00000429746.2:c.1081G>T	ENSP00000402586.2:p.Val361Leu
ENST00000433655.6:c.*352G>T	ENSP00000404902.1:n.*352G>T
ENST00000438213.6:c.1303G>T	ENSP00000415036.2:p.Val435Leu
ENST00000636397.1:c.1071+247G>T	ENSP00000489910.1:n.1071+247G>T
ENST00000636571.1:c.1165G>T	ENSP00000490770.1:p.Val389Leu
ENST00000636579.1:c.72+247G>T	ENSP00000490489.1:n.72+247G>T
ENST00000636615.1:c.1071+247G>T	ENSP00000490014.1:n.1071+247G>T
ENST00000636843.1:c.1180G>T	ENSP00000490897.1:p.Val394Leu
ENST00000637158.1:n.784G>T
ENST00000637381.2:n.3614G>T
ENST00000637387.1:c.1165G>T	ENSP00000490598.1:p.Val389Leu
ENST00000637815.2:c.1168G>T	ENSP00000490344.1:p.Val390Leu
ENST00000637915.1:c.1177G>T	ENSP00000490471.1:p.Val393Leu
ENST00000637937.1:n.494G>T
ENST00000678991.1:c.*1047G>T	ENSP00000503019.1:n.*1047G>T
ENST00000236671.6:c.1186G>T	ENSP00000236671.2:p.Val396Leu
ENST00000427721.2:c.471+247G>T	ENSP00000415840.2:n.471+247G>T
ENST00000429746.1:c.517G>T	ENSP00000402586.1:p.Val173Leu
ENST00000433655.5:c.*352G>T	ENSP00000404902.1:n.*352G>T
NM_001909.4:c.1186G>T	NP_001900.1:p.Val396Leu
NM_001909.5:c.1186G>T MANE Select	NP_001900.1:p.Val396Leu