Canonical Allele Identifier: CA382022128
Gene: CTSC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294410G>T , CM000673.2:g.88294410G>T GRCh38
NC_000011.9:g.88027578G>T , CM000673.1:g.88027578G>T GRCh37
NC_000011.8:g.87667226G>T NCBI36
NG_007952.1:g.48364C>A , LRG_50:g.48364C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000227266.10:c.988C>A MANE Select ENSP00000227266.4:p.Pro330Thr
ENST00000533897.2:n.5301C>A
ENST00000676612.1:c.*795C>A ENSP00000504440.1:n.*795C>A
ENST00000677208.1:c.*494C>A ENSP00000504347.1:n.*494C>A
ENST00000677661.1:c.*665C>A ENSP00000503323.1:n.*665C>A
ENST00000677802.1:c.*665C>A ENSP00000504115.1:n.*665C>A
ENST00000678395.1:c.*494C>A ENSP00000503123.1:n.*494C>A
ENST00000678464.1:c.955C>A ENSP00000503046.1:p.Pro319Thr
ENST00000678506.1:c.949C>A ENSP00000503580.1:p.Pro317Thr
ENST00000678520.1:c.*639C>A ENSP00000503361.1:n.*639C>A
ENST00000678554.1:c.889+1723C>A ENSP00000504541.1:n.889+1723C>A
ENST00000678915.1:c.856C>A ENSP00000504805.1:p.Pro286Thr
ENST00000679224.1:c.625C>A ENSP00000504475.1:p.Pro209Thr
ENST00000227266.9:c.988C>A ENSP00000227266.4:p.Pro330Thr
ENST00000533897.1:n.3722C>A
NM_001814.4:c.988C>A , LRG_50t1:c.988C>A NP_001805.3:p.Pro330Thr
NM_001814.5:c.988C>A NP_001805.3:p.Pro330Thr
NM_001814.6:c.988C>A MANE Select NP_001805.4:p.Pro330Thr