Canonical Allele Identifier: CA658658085
Community Standard Title: NM_001814.6(CTSC):c.458T= (p.Ile153=)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88312415A= , CM000673.2:g.88312415A= GRCh38
NC_000011.9:g.88045583A= , CM000673.1:g.88045583A= GRCh37
NC_000011.8:g.87685231A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.458T= MANE Select NP_001805.4:p.Ile153=
ENST00000227266.10:c.458T= MANE Select ENSP00000227266.4:p.Ile153=
ENST00000227266.9:c.458T= ENSP00000227266.4:p.Ile153=
ENST00000527018.5:c.328T=
ENST00000527018.6:c.458T= ENSP00000432556.2:p.Ile153=
ENST00000533865.5:n.480T=
ENST00000533897.2:n.506T=
ENST00000676612.1:c.*265T= ENSP00000504440.1:n.*265T=
ENST00000677208.1:c.319-3097T= ENSP00000504347.1:n.319-3097T=
ENST00000677661.1:c.*135T= ENSP00000503323.1:n.*135T=
ENST00000677802.1:c.*135T= ENSP00000504115.1:n.*135T=
ENST00000678395.1:c.423+35T= ENSP00000503123.1:n.423+35T=
ENST00000678464.1:c.458T= ENSP00000503046.1:p.Ile153=
ENST00000678506.1:c.446+12T= ENSP00000503580.1:n.446+12T=
ENST00000678520.1:c.*265T= ENSP00000503361.1:n.*265T=
ENST00000678554.1:c.458T= ENSP00000504541.1:p.Ile153=
ENST00000678915.1:c.458T= ENSP00000504805.1:p.Ile153=
ENST00000679224.1:c.95T= ENSP00000504475.1:p.Ile32=