Canonical Allele Identifier: CA472140397

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775099C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753869C>G , CM000673.2:g.1753869C>G	GRCh38
NC_000011.9:g.1775099C>G , CM000673.1:g.1775099C>G	GRCh37
NC_000011.8:g.1731675C>G	NCBI36
NG_008655.1:g.15124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1005G>C MANE Select	ENSP00000236671.2:p.Leu335=
ENST00000367196.4:c.900G>C	ENSP00000356164.4:p.Leu300=
ENST00000427721.3:c.430G>C
ENST00000429746.2:c.900G>C	ENSP00000402586.2:p.Leu300=
ENST00000433655.6:c.*171G>C	ENSP00000404902.1:n.*171G>C
ENST00000438213.6:c.1122G>C	ENSP00000415036.2:p.Leu374=
ENST00000497544.3:n.713G>C
ENST00000636397.1:c.1005G>C	ENSP00000489910.1:p.Leu335=
ENST00000636571.1:c.984G>C	ENSP00000490770.1:p.Leu328=
ENST00000636579.1:c.6G>C	ENSP00000490489.1:p.Leu2=
ENST00000636615.1:c.1005G>C	ENSP00000490014.1:p.Leu335=
ENST00000636843.1:c.999G>C	ENSP00000490897.1:p.Leu333=
ENST00000637158.1:n.603G>C
ENST00000637381.2:n.3433G>C
ENST00000637387.1:c.984G>C	ENSP00000490598.1:p.Leu328=
ENST00000637815.2:c.987G>C	ENSP00000490344.1:p.Leu329=
ENST00000637915.1:c.1005G>C	ENSP00000490471.1:p.Leu335=
ENST00000637937.1:n.313G>C
ENST00000678991.1:c.*866G>C	ENSP00000503019.1:n.*866G>C
ENST00000236671.6:c.1005G>C	ENSP00000236671.2:p.Leu335=
ENST00000427721.2:c.405G>C	ENSP00000415840.2:p.Leu135=
ENST00000429746.1:c.336G>C	ENSP00000402586.1:p.Leu112=
ENST00000433655.5:c.*171G>C	ENSP00000404902.1:n.*171G>C
ENST00000497544.1:n.713G>C
NM_001909.4:c.1005G>C	NP_001900.1:p.Leu335=
NM_001909.5:c.1005G>C MANE Select	NP_001900.1:p.Leu335=