Canonical Allele Identifier: CA118701
Gene: CTSC HGNC NCBI

Linked Data

ClinVar Variation Id: 7301
dbSNP Id: rs104894211

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294358T>C , CM000673.2:g.88294358T>C GRCh38
NC_000011.9:g.88027526T>C , CM000673.1:g.88027526T>C GRCh37
NC_000011.8:g.87667174T>C NCBI36
NG_007952.1:g.48416A>G , LRG_50:g.48416A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000227266.10:c.1040A>G MANE Select ENSP00000227266.4:p.Tyr347Cys
ENST00000533897.2:n.5353A>G
ENST00000676612.1:c.*847A>G ENSP00000504440.1:n.*847A>G
ENST00000677208.1:c.*546A>G ENSP00000504347.1:n.*546A>G
ENST00000677661.1:c.*717A>G ENSP00000503323.1:n.*717A>G
ENST00000677802.1:c.*717A>G ENSP00000504115.1:n.*717A>G
ENST00000678395.1:c.*546A>G ENSP00000503123.1:n.*546A>G
ENST00000678464.1:c.1007A>G ENSP00000503046.1:p.Tyr336Cys
ENST00000678506.1:c.1001A>G ENSP00000503580.1:p.Tyr334Cys
ENST00000678520.1:c.*691A>G ENSP00000503361.1:n.*691A>G
ENST00000678554.1:c.889+1775A>G ENSP00000504541.1:n.889+1775A>G
ENST00000678915.1:c.908A>G ENSP00000504805.1:p.Tyr303Cys
ENST00000679224.1:c.677A>G ENSP00000504475.1:p.Tyr226Cys
ENST00000227266.9:c.1040A>G ENSP00000227266.4:p.Tyr347Cys
ENST00000533897.1:n.3774A>G
NM_001814.4:c.1040A>G , LRG_50t1:c.1040A>G NP_001805.3:p.Tyr347Cys
NM_001814.5:c.1040A>G NP_001805.3:p.Tyr347Cys
NM_001814.6:c.1040A>G MANE Select NP_001805.4:p.Tyr347Cys