Canonical Allele Identifier: CA472140407

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775101G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753871G>A , CM000673.2:g.1753871G>A	GRCh38
NC_000011.9:g.1775101G>A , CM000673.1:g.1775101G>A	GRCh37
NC_000011.8:g.1731677G>A	NCBI36
NG_008655.1:g.15122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1003C>T MANE Select	ENSP00000236671.2:p.Leu335=
ENST00000367196.4:c.898C>T	ENSP00000356164.4:p.Leu300=
ENST00000427721.3:c.428C>T
ENST00000429746.2:c.898C>T	ENSP00000402586.2:p.Leu300=
ENST00000433655.6:c.*169C>T	ENSP00000404902.1:n.*169C>T
ENST00000438213.6:c.1120C>T	ENSP00000415036.2:p.Leu374=
ENST00000497544.3:n.711C>T
ENST00000636397.1:c.1003C>T	ENSP00000489910.1:p.Leu335=
ENST00000636571.1:c.982C>T	ENSP00000490770.1:p.Leu328=
ENST00000636579.1:c.4C>T	ENSP00000490489.1:p.Leu2=
ENST00000636615.1:c.1003C>T	ENSP00000490014.1:p.Leu335=
ENST00000636843.1:c.997C>T	ENSP00000490897.1:p.Leu333=
ENST00000637158.1:n.601C>T
ENST00000637381.2:n.3431C>T
ENST00000637387.1:c.982C>T	ENSP00000490598.1:p.Leu328=
ENST00000637815.2:c.985C>T	ENSP00000490344.1:p.Leu329=
ENST00000637915.1:c.1003C>T	ENSP00000490471.1:p.Leu335=
ENST00000637937.1:n.311C>T
ENST00000678991.1:c.*864C>T	ENSP00000503019.1:n.*864C>T
ENST00000236671.6:c.1003C>T	ENSP00000236671.2:p.Leu335=
ENST00000427721.2:c.403C>T	ENSP00000415840.2:p.Leu135=
ENST00000429746.1:c.334C>T	ENSP00000402586.1:p.Leu112=
ENST00000433655.5:c.*169C>T	ENSP00000404902.1:n.*169C>T
ENST00000497544.1:n.711C>T
NM_001909.4:c.1003C>T	NP_001900.1:p.Leu335=
NM_001909.5:c.1003C>T MANE Select	NP_001900.1:p.Leu335=