Canonical Allele Identifier: CA118679
Gene: CTSC HGNC NCBI

Linked Data

ClinVar Variation Id: 7292
ClinVar RCV Id: RCV000007715
dbSNP Id: rs104894209

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88296166G>A , CM000673.2:g.88296166G>A GRCh38
NC_000011.9:g.88029334G>A , CM000673.1:g.88029334G>A GRCh37
NC_000011.8:g.87668982G>A NCBI36
NG_007952.1:g.46608C>T , LRG_50:g.46608C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000227266.10:c.856C>T MANE Select ENSP00000227266.4:p.Gln286Ter
ENST00000527018.6:c.856C>T ENSP00000432556.2:p.Gln286Ter
ENST00000533897.2:n.5169C>T
ENST00000676612.1:c.*663C>T ENSP00000504440.1:n.*663C>T
ENST00000677208.1:c.*362C>T ENSP00000504347.1:n.*362C>T
ENST00000677661.1:c.*533C>T ENSP00000503323.1:n.*533C>T
ENST00000677802.1:c.*533C>T ENSP00000504115.1:n.*533C>T
ENST00000678395.1:c.*362C>T ENSP00000503123.1:n.*362C>T
ENST00000678464.1:c.856C>T ENSP00000503046.1:p.Gln286Ter
ENST00000678506.1:c.817C>T ENSP00000503580.1:p.Gln273Ter
ENST00000678520.1:c.*507C>T ENSP00000503361.1:n.*507C>T
ENST00000678554.1:c.856C>T ENSP00000504541.1:p.Gln286Ter
ENST00000678915.1:c.758-1658C>T ENSP00000504805.1:n.758-1658C>T
ENST00000679224.1:c.493C>T ENSP00000504475.1:p.Gln165Ter
ENST00000227266.9:c.856C>T ENSP00000227266.4:p.Gln286Ter
ENST00000527018.5:c.726C>T
ENST00000533897.1:n.3590C>T
NM_001814.4:c.856C>T , LRG_50t1:c.856C>T NP_001805.3:p.Gln286Ter
NM_001814.5:c.856C>T NP_001805.3:p.Gln286Ter
NM_001814.6:c.856C>T MANE Select NP_001805.4:p.Gln286Ter