Canonical Allele Identifier: CA379092892

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775058A>T (hg19) ; chr11:g.1753828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753828A>T , CM000673.2:g.1753828A>T	GRCh38
NC_000011.9:g.1775058A>T , CM000673.1:g.1775058A>T	GRCh37
NC_000011.8:g.1731634A>T	NCBI36
NG_008655.1:g.15165T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1046T>A MANE Select	ENSP00000236671.2:p.Leu349Gln
ENST00000367196.4:c.941T>A	ENSP00000356164.4:p.Leu314Gln
ENST00000427721.3:c.471T>A
ENST00000429746.2:c.941T>A	ENSP00000402586.2:p.Leu314Gln
ENST00000433655.6:c.*212T>A	ENSP00000404902.1:n.*212T>A
ENST00000438213.6:c.1163T>A	ENSP00000415036.2:p.Leu388Gln
ENST00000497544.3:n.754T>A
ENST00000636397.1:c.1046T>A	ENSP00000489910.1:p.Leu349Gln
ENST00000636571.1:c.1025T>A	ENSP00000490770.1:p.Leu342Gln
ENST00000636579.1:c.47T>A	ENSP00000490489.1:p.Leu16Gln
ENST00000636615.1:c.1046T>A	ENSP00000490014.1:p.Leu349Gln
ENST00000636843.1:c.1040T>A	ENSP00000490897.1:p.Leu347Gln
ENST00000637158.1:n.644T>A
ENST00000637381.2:n.3474T>A
ENST00000637387.1:c.1025T>A	ENSP00000490598.1:p.Leu342Gln
ENST00000637815.2:c.1028T>A	ENSP00000490344.1:p.Leu343Gln
ENST00000637915.1:c.1046T>A	ENSP00000490471.1:p.Leu349Gln
ENST00000637937.1:n.354T>A
ENST00000678991.1:c.*907T>A	ENSP00000503019.1:n.*907T>A
ENST00000236671.6:c.1046T>A	ENSP00000236671.2:p.Leu349Gln
ENST00000427721.2:c.446T>A	ENSP00000415840.2:p.Leu149Gln
ENST00000429746.1:c.377T>A	ENSP00000402586.1:p.Leu126Gln
ENST00000433655.5:c.*212T>A	ENSP00000404902.1:n.*212T>A
ENST00000497544.1:n.754T>A
NM_001909.4:c.1046T>A	NP_001900.1:p.Leu349Gln
NM_001909.5:c.1046T>A MANE Select	NP_001900.1:p.Leu349Gln