Canonical Allele Identifier: CA379092807

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774900C>A (hg19) ; chr11:g.1753670C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753670C>A , CM000673.2:g.1753670C>A	GRCh38
NC_000011.9:g.1774900C>A , CM000673.1:g.1774900C>A	GRCh37
NC_000011.8:g.1731476C>A	NCBI36
NG_008655.1:g.15323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1072G>T MANE Select	ENSP00000236671.2:p.Val358Leu
ENST00000367196.4:c.967G>T	ENSP00000356164.4:p.Val323Leu
ENST00000427721.3:c.497G>T
ENST00000429746.2:c.967G>T	ENSP00000402586.2:p.Val323Leu
ENST00000433655.6:c.*238G>T	ENSP00000404902.1:n.*238G>T
ENST00000438213.6:c.1189G>T	ENSP00000415036.2:p.Val397Leu
ENST00000497544.3:n.780G>T
ENST00000636397.1:c.1071+133G>T	ENSP00000489910.1:n.1071+133G>T
ENST00000636571.1:c.1051G>T	ENSP00000490770.1:p.Val351Leu
ENST00000636579.1:c.72+133G>T	ENSP00000490489.1:n.72+133G>T
ENST00000636615.1:c.1071+133G>T	ENSP00000490014.1:n.1071+133G>T
ENST00000636843.1:c.1066G>T	ENSP00000490897.1:p.Val356Leu
ENST00000637158.1:n.670G>T
ENST00000637381.2:n.3500G>T
ENST00000637387.1:c.1051G>T	ENSP00000490598.1:p.Val351Leu
ENST00000637815.2:c.1054G>T	ENSP00000490344.1:p.Val352Leu
ENST00000637915.1:c.1072-9G>T	ENSP00000490471.1:n.1072-9G>T
ENST00000637937.1:n.380G>T
ENST00000678991.1:c.*933G>T	ENSP00000503019.1:n.*933G>T
ENST00000236671.6:c.1072G>T	ENSP00000236671.2:p.Val358Leu
ENST00000427721.2:c.471+133G>T	ENSP00000415840.2:n.471+133G>T
ENST00000429746.1:c.403G>T	ENSP00000402586.1:p.Val135Leu
ENST00000433655.5:c.*238G>T	ENSP00000404902.1:n.*238G>T
NM_001909.4:c.1072G>T	NP_001900.1:p.Val358Leu
NM_001909.5:c.1072G>T MANE Select	NP_001900.1:p.Val358Leu