Canonical Allele Identifier: CA10631712

Gene: CTSC

Linked Data

• ClinVar Variation Id: 306421
• ClinVar RCV Id: RCV000286007 ; RCV001466025 ; RCV000380593
• dbSNP Id: rs886048739
• gnomAD v4: 11-88294444-T-C
• MyVariant Identifiers: chr11:g.88027612T>C (hg19) ; chr11:g.88294444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294444T>C , CM000673.2:g.88294444T>C	GRCh38
NC_000011.9:g.88027612T>C , CM000673.1:g.88027612T>C	GRCh37
NC_000011.8:g.87667260T>C	NCBI36
NG_007952.1:g.48330A>G , LRG_50:g.48330A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.954A>G MANE Select	ENSP00000227266.4:p.Glu318=
ENST00000533897.2:n.5267A>G
ENST00000676612.1:c.*761A>G	ENSP00000504440.1:n.*761A>G
ENST00000677208.1:c.*460A>G	ENSP00000504347.1:n.*460A>G
ENST00000677661.1:c.*631A>G	ENSP00000503323.1:n.*631A>G
ENST00000677802.1:c.*631A>G	ENSP00000504115.1:n.*631A>G
ENST00000678395.1:c.*460A>G	ENSP00000503123.1:n.*460A>G
ENST00000678464.1:c.921A>G	ENSP00000503046.1:p.Glu307=
ENST00000678506.1:c.915A>G	ENSP00000503580.1:p.Glu305=
ENST00000678520.1:c.*605A>G	ENSP00000503361.1:n.*605A>G
ENST00000678554.1:c.889+1689A>G	ENSP00000504541.1:n.889+1689A>G
ENST00000678915.1:c.822A>G	ENSP00000504805.1:p.Glu274=
ENST00000679224.1:c.591A>G	ENSP00000504475.1:p.Glu197=
ENST00000227266.9:c.954A>G	ENSP00000227266.4:p.Glu318=
ENST00000533897.1:n.3688A>G
NM_001814.4:c.954A>G , LRG_50t1:c.954A>G	NP_001805.3:p.Glu318=
NM_001814.5:c.954A>G	NP_001805.3:p.Glu318=
NM_001814.6:c.954A>G MANE Select	NP_001805.4:p.Glu318=