Canonical Allele Identifier: CA382022185
Gene: CTSC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294436C>T , CM000673.2:g.88294436C>T GRCh38
NC_000011.9:g.88027604C>T , CM000673.1:g.88027604C>T GRCh37
NC_000011.8:g.87667252C>T NCBI36
NG_007952.1:g.48338G>A , LRG_50:g.48338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.962G>A MANE Select ENSP00000227266.4:p.Cys321Tyr
ENST00000533897.2:n.5275G>A
ENST00000676612.1:c.*769G>A ENSP00000504440.1:n.*769G>A
ENST00000677208.1:c.*468G>A ENSP00000504347.1:n.*468G>A
ENST00000677661.1:c.*639G>A ENSP00000503323.1:n.*639G>A
ENST00000677802.1:c.*639G>A ENSP00000504115.1:n.*639G>A
ENST00000678395.1:c.*468G>A ENSP00000503123.1:n.*468G>A
ENST00000678464.1:c.929G>A ENSP00000503046.1:p.Cys310Tyr
ENST00000678506.1:c.923G>A ENSP00000503580.1:p.Cys308Tyr
ENST00000678520.1:c.*613G>A ENSP00000503361.1:n.*613G>A
ENST00000678554.1:c.889+1697G>A ENSP00000504541.1:n.889+1697G>A
ENST00000678915.1:c.830G>A ENSP00000504805.1:p.Cys277Tyr
ENST00000679224.1:c.599G>A ENSP00000504475.1:p.Cys200Tyr
ENST00000227266.9:c.962G>A ENSP00000227266.4:p.Cys321Tyr
ENST00000533897.1:n.3696G>A
NM_001814.4:c.962G>A , LRG_50t1:c.962G>A NP_001805.3:p.Cys321Tyr
NM_001814.5:c.962G>A NP_001805.3:p.Cys321Tyr
NM_001814.6:c.962G>A MANE Select NP_001805.4:p.Cys321Tyr