Canonical Allele Identifier: CA379092880

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775052G>T (hg19) ; chr11:g.1753822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753822G>T , CM000673.2:g.1753822G>T	GRCh38
NC_000011.9:g.1775052G>T , CM000673.1:g.1775052G>T	GRCh37
NC_000011.8:g.1731628G>T	NCBI36
NG_008655.1:g.15171C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1052C>A MANE Select	ENSP00000236671.2:p.Pro351Gln
ENST00000367196.4:c.947C>A	ENSP00000356164.4:p.Pro316Gln
ENST00000427721.3:c.477C>A
ENST00000429746.2:c.947C>A	ENSP00000402586.2:p.Pro316Gln
ENST00000433655.6:c.*218C>A	ENSP00000404902.1:n.*218C>A
ENST00000438213.6:c.1169C>A	ENSP00000415036.2:p.Pro390Gln
ENST00000497544.3:n.760C>A
ENST00000636397.1:c.1052C>A	ENSP00000489910.1:p.Pro351Gln
ENST00000636571.1:c.1031C>A	ENSP00000490770.1:p.Pro344Gln
ENST00000636579.1:c.53C>A	ENSP00000490489.1:p.Pro18Gln
ENST00000636615.1:c.1052C>A	ENSP00000490014.1:p.Pro351Gln
ENST00000636843.1:c.1046C>A	ENSP00000490897.1:p.Pro349Gln
ENST00000637158.1:n.650C>A
ENST00000637381.2:n.3480C>A
ENST00000637387.1:c.1031C>A	ENSP00000490598.1:p.Pro344Gln
ENST00000637815.2:c.1034C>A	ENSP00000490344.1:p.Pro345Gln
ENST00000637915.1:c.1052C>A	ENSP00000490471.1:p.Pro351Gln
ENST00000637937.1:n.360C>A
ENST00000678991.1:c.*913C>A	ENSP00000503019.1:n.*913C>A
ENST00000236671.6:c.1052C>A	ENSP00000236671.2:p.Pro351Gln
ENST00000427721.2:c.452C>A	ENSP00000415840.2:p.Pro151Gln
ENST00000429746.1:c.383C>A	ENSP00000402586.1:p.Pro128Gln
ENST00000433655.5:c.*218C>A	ENSP00000404902.1:n.*218C>A
ENST00000497544.1:n.760C>A
NM_001909.4:c.1052C>A	NP_001900.1:p.Pro351Gln
NM_001909.5:c.1052C>A MANE Select	NP_001900.1:p.Pro351Gln