Canonical Allele Identifier: CA382029808
Community Standard Title: NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88334987G>A , CM000673.2:g.88334987G>A GRCh38
NC_000011.9:g.88068155G>A , CM000673.1:g.88068155G>A GRCh37
NC_000011.8:g.87707803G>A NCBI36
NG_007952.1:g.7787C>T , LRG_50:g.7787C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.268C>T MANE Select NP_001805.4:p.Gln90Ter
ENST00000227266.10:c.268C>T MANE Select ENSP00000227266.4:p.Gln90Ter
NM_001114173.1:c.268C>T NP_001107645.1:p.Gln90Ter
NM_001114173.2:c.268C>T NP_001107645.1:p.Gln90Ter
NM_001114173.3:c.268C>T NP_001107645.1:p.Gln90Ter
NM_001814.4:c.268C>T , LRG_50t1:c.268C>T NP_001805.3:p.Gln90Ter
NM_001814.5:c.268C>T NP_001805.3:p.Gln90Ter
NM_148170.3:c.268C>T NP_680475.1:p.Gln90Ter
NM_148170.4:c.268C>T NP_680475.1:p.Gln90Ter
NM_148170.5:c.268C>T NP_680475.1:p.Gln90Ter
ENST00000227266.9:c.268C>T ENSP00000227266.4:p.Gln90Ter
ENST00000393301.4:n.296C>T
ENST00000393301.5:c.268C>T ENSP00000503502.1:p.Gln90Ter
ENST00000524463.5:c.268C>T ENSP00000432541.1:p.Gln90Ter
ENST00000524463.6:c.268C>T ENSP00000432541.1:p.Gln90Ter
ENST00000527018.5:c.138C>T
ENST00000527018.6:c.268C>T ENSP00000432556.2:p.Gln90Ter
ENST00000528020.2:c.-81C>T ENSP00000433229.2:n.-81C>T
ENST00000529974.1:c.268C>T ENSP00000433539.1:p.Gln90Ter
ENST00000529974.2:c.268C>T ENSP00000433539.1:p.Gln90Ter
ENST00000533865.5:n.290C>T
ENST00000533865.6:n.332C>T
ENST00000533897.2:n.316C>T
ENST00000534131.1:n.332C>T
ENST00000534131.2:n.322C>T
ENST00000676529.1:n.1486C>T
ENST00000676612.1:c.*75C>T ENSP00000504440.1:n.*75C>T
ENST00000677106.1:c.268C>T ENSP00000504568.1:p.Gln90Ter
ENST00000677208.1:c.268C>T ENSP00000504347.1:p.Gln90Ter
ENST00000677468.1:c.172+2514C>T ENSP00000503100.1:n.172+2514C>T
ENST00000677661.1:c.268C>T ENSP00000503323.1:p.Gln90Ter
ENST00000677796.1:c.*75C>T ENSP00000504297.1:n.*75C>T
ENST00000677802.1:c.268C>T ENSP00000504115.1:p.Gln90Ter
ENST00000677877.1:c.*368C>T ENSP00000504427.1:n.*368C>T
ENST00000677976.1:c.268C>T ENSP00000502887.1:p.Gln90Ter
ENST00000678395.1:c.268C>T ENSP00000503123.1:p.Gln90Ter
ENST00000678464.1:c.268C>T ENSP00000503046.1:p.Gln90Ter
ENST00000678506.1:c.268C>T ENSP00000503580.1:p.Gln90Ter
ENST00000678520.1:c.*75C>T ENSP00000503361.1:n.*75C>T
ENST00000678554.1:c.268C>T ENSP00000504541.1:p.Gln90Ter
ENST00000678915.1:c.268C>T ENSP00000504805.1:p.Gln90Ter
ENST00000679032.1:c.268C>T ENSP00000504567.1:p.Gln90Ter
ENST00000679199.1:c.268C>T ENSP00000504179.1:p.Gln90Ter
ENST00000679224.1:c.-96C>T ENSP00000504475.1:n.-96C>T