Canonical Allele Identifier: CA379093713

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775261T>A (hg19) ; chr11:g.1754031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754031T>A , CM000673.2:g.1754031T>A	GRCh38
NC_000011.9:g.1775261T>A , CM000673.1:g.1775261T>A	GRCh37
NC_000011.8:g.1731837T>A	NCBI36
NG_008655.1:g.14962A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.935A>T MANE Select	ENSP00000236671.2:p.Gln312Leu
ENST00000367196.4:c.830A>T	ENSP00000356164.4:p.Gln277Leu
ENST00000427721.3:c.360A>T
ENST00000429746.2:c.830A>T	ENSP00000402586.2:p.Gln277Leu
ENST00000433655.6:c.*101A>T	ENSP00000404902.1:n.*101A>T
ENST00000438213.6:c.1052A>T	ENSP00000415036.2:p.Gln351Leu
ENST00000497544.3:n.551A>T
ENST00000636397.1:c.935A>T	ENSP00000489910.1:p.Gln312Leu
ENST00000636571.1:c.914A>T	ENSP00000490770.1:p.Gln305Leu
ENST00000636615.1:c.935A>T	ENSP00000490014.1:p.Gln312Leu
ENST00000636843.1:c.929A>T	ENSP00000490897.1:p.Gln310Leu
ENST00000637158.1:n.533A>T
ENST00000637381.2:n.3363A>T
ENST00000637387.1:c.935A>T	ENSP00000490598.1:p.Gln312Leu
ENST00000637815.2:c.917A>T	ENSP00000490344.1:p.Gln306Leu
ENST00000637915.1:c.935A>T	ENSP00000490471.1:p.Gln312Leu
ENST00000637937.1:n.243A>T
ENST00000678991.1:c.*796A>T	ENSP00000503019.1:n.*796A>T
ENST00000236671.6:c.935A>T	ENSP00000236671.2:p.Gln312Leu
ENST00000427721.2:c.335A>T	ENSP00000415840.2:p.Gln112Leu
ENST00000429746.1:c.266A>T	ENSP00000402586.1:p.Gln89Leu
ENST00000433655.5:c.*101A>T	ENSP00000404902.1:n.*101A>T
ENST00000438213.5:c.890A>T	ENSP00000415036.1:p.Gln297Leu
ENST00000497544.1:n.551A>T
NM_001909.4:c.935A>T	NP_001900.1:p.Gln312Leu
NM_001909.5:c.935A>T MANE Select	NP_001900.1:p.Gln312Leu