Canonical Allele Identifier: CA382021462
Gene: CTSC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294111C>A , CM000673.2:g.88294111C>A GRCh38
NC_000011.9:g.88027279C>A , CM000673.1:g.88027279C>A GRCh37
NC_000011.8:g.87666927C>A NCBI36
NG_007952.1:g.48663G>T , LRG_50:g.48663G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000227266.10:c.1287G>T MANE Select ENSP00000227266.4:p.Trp429Cys
ENST00000533897.2:n.5600G>T
ENST00000676612.1:c.*1094G>T ENSP00000504440.1:n.*1094G>T
ENST00000677208.1:c.*793G>T ENSP00000504347.1:n.*793G>T
ENST00000677661.1:c.*964G>T ENSP00000503323.1:n.*964G>T
ENST00000677802.1:c.*964G>T ENSP00000504115.1:n.*964G>T
ENST00000678395.1:c.*793G>T ENSP00000503123.1:n.*793G>T
ENST00000678464.1:c.1254G>T ENSP00000503046.1:p.Trp418Cys
ENST00000678506.1:c.1248G>T ENSP00000503580.1:p.Trp416Cys
ENST00000678520.1:c.*938G>T ENSP00000503361.1:n.*938G>T
ENST00000678554.1:c.889+2022G>T ENSP00000504541.1:n.889+2022G>T
ENST00000678915.1:c.1155G>T ENSP00000504805.1:p.Trp385Cys
ENST00000679224.1:c.924G>T ENSP00000504475.1:p.Trp308Cys
ENST00000227266.9:c.1287G>T ENSP00000227266.4:p.Trp429Cys
ENST00000533897.1:n.4021G>T
NM_001814.4:c.1287G>T , LRG_50t1:c.1287G>T NP_001805.3:p.Trp429Cys
NM_001814.5:c.1287G>T NP_001805.3:p.Trp429Cys
NM_001814.6:c.1287G>T MANE Select NP_001805.4:p.Trp429Cys