Canonical Allele Identifier: CA472140290

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775078C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753848C>A , CM000673.2:g.1753848C>A	GRCh38
NC_000011.9:g.1775078C>A , CM000673.1:g.1775078C>A	GRCh37
NC_000011.8:g.1731654C>A	NCBI36
NG_008655.1:g.15145G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1026G>T MANE Select	ENSP00000236671.2:p.Leu342=
ENST00000367196.4:c.921G>T	ENSP00000356164.4:p.Leu307=
ENST00000427721.3:c.451G>T
ENST00000429746.2:c.921G>T	ENSP00000402586.2:p.Leu307=
ENST00000433655.6:c.*192G>T	ENSP00000404902.1:n.*192G>T
ENST00000438213.6:c.1143G>T	ENSP00000415036.2:p.Leu381=
ENST00000497544.3:n.734G>T
ENST00000636397.1:c.1026G>T	ENSP00000489910.1:p.Leu342=
ENST00000636571.1:c.1005G>T	ENSP00000490770.1:p.Leu335=
ENST00000636579.1:c.27G>T	ENSP00000490489.1:p.Leu9=
ENST00000636615.1:c.1026G>T	ENSP00000490014.1:p.Leu342=
ENST00000636843.1:c.1020G>T	ENSP00000490897.1:p.Leu340=
ENST00000637158.1:n.624G>T
ENST00000637381.2:n.3454G>T
ENST00000637387.1:c.1005G>T	ENSP00000490598.1:p.Leu335=
ENST00000637815.2:c.1008G>T	ENSP00000490344.1:p.Leu336=
ENST00000637915.1:c.1026G>T	ENSP00000490471.1:p.Leu342=
ENST00000637937.1:n.334G>T
ENST00000678991.1:c.*887G>T	ENSP00000503019.1:n.*887G>T
ENST00000236671.6:c.1026G>T	ENSP00000236671.2:p.Leu342=
ENST00000427721.2:c.426G>T	ENSP00000415840.2:p.Leu142=
ENST00000429746.1:c.357G>T	ENSP00000402586.1:p.Leu119=
ENST00000433655.5:c.*192G>T	ENSP00000404902.1:n.*192G>T
ENST00000497544.1:n.734G>T
NM_001909.4:c.1026G>T	NP_001900.1:p.Leu342=
NM_001909.5:c.1026G>T MANE Select	NP_001900.1:p.Leu342=