Canonical Allele Identifier: CA382022026
Gene: CTSC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294366C>A , CM000673.2:g.88294366C>A GRCh38
NC_000011.9:g.88027534C>A , CM000673.1:g.88027534C>A GRCh37
NC_000011.8:g.87667182C>A NCBI36
NG_007952.1:g.48408G>T , LRG_50:g.48408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.1032G>T MANE Select ENSP00000227266.4:p.Glu344Asp
ENST00000533897.2:n.5345G>T
ENST00000676612.1:c.*839G>T ENSP00000504440.1:n.*839G>T
ENST00000677208.1:c.*538G>T ENSP00000504347.1:n.*538G>T
ENST00000677661.1:c.*709G>T ENSP00000503323.1:n.*709G>T
ENST00000677802.1:c.*709G>T ENSP00000504115.1:n.*709G>T
ENST00000678395.1:c.*538G>T ENSP00000503123.1:n.*538G>T
ENST00000678464.1:c.999G>T ENSP00000503046.1:p.Glu333Asp
ENST00000678506.1:c.993G>T ENSP00000503580.1:p.Glu331Asp
ENST00000678520.1:c.*683G>T ENSP00000503361.1:n.*683G>T
ENST00000678554.1:c.889+1767G>T ENSP00000504541.1:n.889+1767G>T
ENST00000678915.1:c.900G>T ENSP00000504805.1:p.Glu300Asp
ENST00000679224.1:c.669G>T ENSP00000504475.1:p.Glu223Asp
ENST00000227266.9:c.1032G>T ENSP00000227266.4:p.Glu344Asp
ENST00000533897.1:n.3766G>T
NM_001814.4:c.1032G>T , LRG_50t1:c.1032G>T NP_001805.3:p.Glu344Asp
NM_001814.5:c.1032G>T NP_001805.3:p.Glu344Asp
NM_001814.6:c.1032G>T MANE Select NP_001805.4:p.Glu344Asp