Canonical Allele Identifier: CA379092671

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774861T>A (hg19) ; chr11:g.1753631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753631T>A , CM000673.2:g.1753631T>A	GRCh38
NC_000011.9:g.1774861T>A , CM000673.1:g.1774861T>A	GRCh37
NC_000011.8:g.1731437T>A	NCBI36
NG_008655.1:g.15362A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1111A>T MANE Select	ENSP00000236671.2:p.Met371Leu
ENST00000367196.4:c.1006A>T	ENSP00000356164.4:p.Met336Leu
ENST00000427721.3:c.536A>T
ENST00000429746.2:c.1006A>T	ENSP00000402586.2:p.Met336Leu
ENST00000433655.6:c.*277A>T	ENSP00000404902.1:n.*277A>T
ENST00000438213.6:c.1228A>T	ENSP00000415036.2:p.Met410Leu
ENST00000636397.1:c.1071+172A>T	ENSP00000489910.1:n.1071+172A>T
ENST00000636571.1:c.1090A>T	ENSP00000490770.1:p.Met364Leu
ENST00000636579.1:c.72+172A>T	ENSP00000490489.1:n.72+172A>T
ENST00000636615.1:c.1071+172A>T	ENSP00000490014.1:n.1071+172A>T
ENST00000636843.1:c.1105A>T	ENSP00000490897.1:p.Met369Leu
ENST00000637158.1:n.709A>T
ENST00000637381.2:n.3539A>T
ENST00000637387.1:c.1090A>T	ENSP00000490598.1:p.Met364Leu
ENST00000637815.2:c.1093A>T	ENSP00000490344.1:p.Met365Leu
ENST00000637915.1:c.1102A>T	ENSP00000490471.1:p.Met368Leu
ENST00000637937.1:n.419A>T
ENST00000678991.1:c.*972A>T	ENSP00000503019.1:n.*972A>T
ENST00000236671.6:c.1111A>T	ENSP00000236671.2:p.Met371Leu
ENST00000427721.2:c.471+172A>T	ENSP00000415840.2:n.471+172A>T
ENST00000429746.1:c.442A>T	ENSP00000402586.1:p.Met148Leu
ENST00000433655.5:c.*277A>T	ENSP00000404902.1:n.*277A>T
NM_001909.4:c.1111A>T	NP_001900.1:p.Met371Leu
NM_001909.5:c.1111A>T MANE Select	NP_001900.1:p.Met371Leu