Canonical Allele Identifier: CA118695

Gene: CTSC

Linked Data

• ClinVar Variation Id: 7299
• ClinVar RCV Id: RCV000007722 ; RCV002512876
• dbSNP Id: rs104894216
• MyVariant Identifiers: chr11:g.88045661T>G (hg19) ; chr11:g.88312493T>G (hg38)
• PubMed: PMID:11886537

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312493T>G , CM000673.2:g.88312493T>G	GRCh38
NC_000011.9:g.88045661T>G , CM000673.1:g.88045661T>G	GRCh37
NC_000011.8:g.87685309T>G	NCBI36
NG_007952.1:g.30281A>C , LRG_50:g.30281A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.380A>C MANE Select	ENSP00000227266.4:p.His127Pro
ENST00000527018.6:c.380A>C	ENSP00000432556.2:p.His127Pro
ENST00000533897.2:n.428A>C
ENST00000676612.1:c.*187A>C	ENSP00000504440.1:n.*187A>C
ENST00000677208.1:c.319-3175A>C	ENSP00000504347.1:n.319-3175A>C
ENST00000677661.1:c.*57A>C	ENSP00000503323.1:n.*57A>C
ENST00000677802.1:c.*57A>C	ENSP00000504115.1:n.*57A>C
ENST00000678395.1:c.380A>C	ENSP00000503123.1:p.His127Pro
ENST00000678464.1:c.380A>C	ENSP00000503046.1:p.His127Pro
ENST00000678506.1:c.380A>C	ENSP00000503580.1:p.His127Pro
ENST00000678520.1:c.*187A>C	ENSP00000503361.1:n.*187A>C
ENST00000678554.1:c.380A>C	ENSP00000504541.1:p.His127Pro
ENST00000678915.1:c.380A>C	ENSP00000504805.1:p.His127Pro
ENST00000679224.1:c.17A>C	ENSP00000504475.1:p.His6Pro
ENST00000227266.9:c.380A>C	ENSP00000227266.4:p.His127Pro
ENST00000527018.5:c.250A>C
ENST00000533865.5:n.402A>C
NM_001814.4:c.380A>C , LRG_50t1:c.380A>C	NP_001805.3:p.His127Pro
NM_001814.5:c.380A>C	NP_001805.3:p.His127Pro
NM_001814.6:c.380A>C MANE Select	NP_001805.4:p.His127Pro