Canonical Allele Identifier: CA472140319

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775084C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753854C>A , CM000673.2:g.1753854C>A	GRCh38
NC_000011.9:g.1775084C>A , CM000673.1:g.1775084C>A	GRCh37
NC_000011.8:g.1731660C>A	NCBI36
NG_008655.1:g.15139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1020G>T MANE Select	ENSP00000236671.2:p.Leu340=
ENST00000367196.4:c.915G>T	ENSP00000356164.4:p.Leu305=
ENST00000427721.3:c.445G>T
ENST00000429746.2:c.915G>T	ENSP00000402586.2:p.Leu305=
ENST00000433655.6:c.*186G>T	ENSP00000404902.1:n.*186G>T
ENST00000438213.6:c.1137G>T	ENSP00000415036.2:p.Leu379=
ENST00000497544.3:n.728G>T
ENST00000636397.1:c.1020G>T	ENSP00000489910.1:p.Leu340=
ENST00000636571.1:c.999G>T	ENSP00000490770.1:p.Leu333=
ENST00000636579.1:c.21G>T	ENSP00000490489.1:p.Leu7=
ENST00000636615.1:c.1020G>T	ENSP00000490014.1:p.Leu340=
ENST00000636843.1:c.1014G>T	ENSP00000490897.1:p.Leu338=
ENST00000637158.1:n.618G>T
ENST00000637381.2:n.3448G>T
ENST00000637387.1:c.999G>T	ENSP00000490598.1:p.Leu333=
ENST00000637815.2:c.1002G>T	ENSP00000490344.1:p.Leu334=
ENST00000637915.1:c.1020G>T	ENSP00000490471.1:p.Leu340=
ENST00000637937.1:n.328G>T
ENST00000678991.1:c.*881G>T	ENSP00000503019.1:n.*881G>T
ENST00000236671.6:c.1020G>T	ENSP00000236671.2:p.Leu340=
ENST00000427721.2:c.420G>T	ENSP00000415840.2:p.Leu140=
ENST00000429746.1:c.351G>T	ENSP00000402586.1:p.Leu117=
ENST00000433655.5:c.*186G>T	ENSP00000404902.1:n.*186G>T
ENST00000497544.1:n.728G>T
NM_001909.4:c.1020G>T	NP_001900.1:p.Leu340=
NM_001909.5:c.1020G>T MANE Select	NP_001900.1:p.Leu340=