Canonical Allele Identifier: CA379093530

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754002-G-A
• COSMIC: COSM3868909
• MyVariant Identifiers: chr11:g.1775232G>A (hg19) ; chr11:g.1754002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754002G>A , CM000673.2:g.1754002G>A	GRCh38
NC_000011.9:g.1775232G>A , CM000673.1:g.1775232G>A	GRCh37
NC_000011.8:g.1731808G>A	NCBI36
NG_008655.1:g.14991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.964C>T MANE Select	ENSP00000236671.2:p.Gln322Ter
ENST00000367196.4:c.859C>T	ENSP00000356164.4:p.Gln287Ter
ENST00000427721.3:c.389C>T
ENST00000429746.2:c.859C>T	ENSP00000402586.2:p.Gln287Ter
ENST00000433655.6:c.*130C>T	ENSP00000404902.1:n.*130C>T
ENST00000438213.6:c.1081C>T	ENSP00000415036.2:p.Gln361Ter
ENST00000497544.3:n.580C>T
ENST00000636397.1:c.964C>T	ENSP00000489910.1:p.Gln322Ter
ENST00000636571.1:c.943C>T	ENSP00000490770.1:p.Gln315Ter
ENST00000636615.1:c.964C>T	ENSP00000490014.1:p.Gln322Ter
ENST00000636843.1:c.958C>T	ENSP00000490897.1:p.Gln320Ter
ENST00000637158.1:n.562C>T
ENST00000637381.2:n.3392C>T
ENST00000637387.1:c.964C>T	ENSP00000490598.1:p.Gln322Ter
ENST00000637815.2:c.946C>T	ENSP00000490344.1:p.Gln316Ter
ENST00000637915.1:c.964C>T	ENSP00000490471.1:p.Gln322Ter
ENST00000637937.1:n.272C>T
ENST00000678991.1:c.*825C>T	ENSP00000503019.1:n.*825C>T
ENST00000236671.6:c.964C>T	ENSP00000236671.2:p.Gln322Ter
ENST00000427721.2:c.364C>T	ENSP00000415840.2:p.Gln122Ter
ENST00000429746.1:c.295C>T	ENSP00000402586.1:p.Gln99Ter
ENST00000433655.5:c.*130C>T	ENSP00000404902.1:n.*130C>T
ENST00000497544.1:n.580C>T
NM_001909.4:c.964C>T	NP_001900.1:p.Gln322Ter
NM_001909.5:c.964C>T MANE Select	NP_001900.1:p.Gln322Ter