Canonical Allele Identifier: CA382022098
Gene: CTSC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294397T>G , CM000673.2:g.88294397T>G GRCh38
NC_000011.9:g.88027565T>G , CM000673.1:g.88027565T>G GRCh37
NC_000011.8:g.87667213T>G NCBI36
NG_007952.1:g.48377A>C , LRG_50:g.48377A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000227266.10:c.1001A>C MANE Select ENSP00000227266.4:p.Lys334Thr
ENST00000533897.2:n.5314A>C
ENST00000676612.1:c.*808A>C ENSP00000504440.1:n.*808A>C
ENST00000677208.1:c.*507A>C ENSP00000504347.1:n.*507A>C
ENST00000677661.1:c.*678A>C ENSP00000503323.1:n.*678A>C
ENST00000677802.1:c.*678A>C ENSP00000504115.1:n.*678A>C
ENST00000678395.1:c.*507A>C ENSP00000503123.1:n.*507A>C
ENST00000678464.1:c.968A>C ENSP00000503046.1:p.Lys323Thr
ENST00000678506.1:c.962A>C ENSP00000503580.1:p.Lys321Thr
ENST00000678520.1:c.*652A>C ENSP00000503361.1:n.*652A>C
ENST00000678554.1:c.889+1736A>C ENSP00000504541.1:n.889+1736A>C
ENST00000678915.1:c.869A>C ENSP00000504805.1:p.Lys290Thr
ENST00000679224.1:c.638A>C ENSP00000504475.1:p.Lys213Thr
ENST00000227266.9:c.1001A>C ENSP00000227266.4:p.Lys334Thr
ENST00000533897.1:n.3735A>C
NM_001814.4:c.1001A>C , LRG_50t1:c.1001A>C NP_001805.3:p.Lys334Thr
NM_001814.5:c.1001A>C NP_001805.3:p.Lys334Thr
NM_001814.6:c.1001A>C MANE Select NP_001805.4:p.Lys334Thr