Canonical Allele Identifier: CA382022383
Community Standard Title: NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88296145G>A , CM000673.2:g.88296145G>A GRCh38
NC_000011.9:g.88029313G>A , CM000673.1:g.88029313G>A GRCh37
NC_000011.8:g.87668961G>A NCBI36
NG_007952.1:g.46629C>T , LRG_50:g.46629C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.877C>T MANE Select NP_001805.4:p.Gln293Ter
ENST00000227266.10:c.877C>T MANE Select ENSP00000227266.4:p.Gln293Ter
NM_001814.4:c.877C>T , LRG_50t1:c.877C>T NP_001805.3:p.Gln293Ter
NM_001814.5:c.877C>T NP_001805.3:p.Gln293Ter
ENST00000227266.9:c.877C>T ENSP00000227266.4:p.Gln293Ter
ENST00000527018.6:c.877C>T ENSP00000432556.2:p.Gln293Ter
ENST00000533897.1:n.3611C>T
ENST00000533897.2:n.5190C>T
ENST00000676612.1:c.*684C>T ENSP00000504440.1:n.*684C>T
ENST00000677208.1:c.*383C>T ENSP00000504347.1:n.*383C>T
ENST00000677661.1:c.*554C>T ENSP00000503323.1:n.*554C>T
ENST00000677802.1:c.*554C>T ENSP00000504115.1:n.*554C>T
ENST00000678395.1:c.*383C>T ENSP00000503123.1:n.*383C>T
ENST00000678464.1:c.877C>T ENSP00000503046.1:p.Gln293Ter
ENST00000678506.1:c.838C>T ENSP00000503580.1:p.Gln280Ter
ENST00000678520.1:c.*528C>T ENSP00000503361.1:n.*528C>T
ENST00000678554.1:c.877C>T ENSP00000504541.1:p.Gln293Ter
ENST00000678915.1:c.758-1637C>T ENSP00000504805.1:n.758-1637C>T
ENST00000679224.1:c.514C>T ENSP00000504475.1:p.Gln172Ter