Canonical Allele Identifier: CA382022256
Community Standard Title: NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294468G>C , CM000673.2:g.88294468G>C GRCh38
NC_000011.9:g.88027636G>C , CM000673.1:g.88027636G>C GRCh37
NC_000011.8:g.87667284G>C NCBI36
NG_007952.1:g.48306C>G , LRG_50:g.48306C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.930C>G MANE Select NP_001805.4:p.Tyr310Ter
ENST00000227266.10:c.930C>G MANE Select ENSP00000227266.4:p.Tyr310Ter
NM_001814.4:c.930C>G , LRG_50t1:c.930C>G NP_001805.3:p.Tyr310Ter
NM_001814.5:c.930C>G NP_001805.3:p.Tyr310Ter
ENST00000227266.9:c.930C>G ENSP00000227266.4:p.Tyr310Ter
ENST00000533897.1:n.3664C>G
ENST00000533897.2:n.5243C>G
ENST00000676612.1:c.*737C>G ENSP00000504440.1:n.*737C>G
ENST00000677208.1:c.*436C>G ENSP00000504347.1:n.*436C>G
ENST00000677661.1:c.*607C>G ENSP00000503323.1:n.*607C>G
ENST00000677802.1:c.*607C>G ENSP00000504115.1:n.*607C>G
ENST00000678395.1:c.*436C>G ENSP00000503123.1:n.*436C>G
ENST00000678464.1:c.897C>G ENSP00000503046.1:p.Tyr299Ter
ENST00000678506.1:c.891C>G ENSP00000503580.1:p.Tyr297Ter
ENST00000678520.1:c.*581C>G ENSP00000503361.1:n.*581C>G
ENST00000678554.1:c.889+1665C>G ENSP00000504541.1:n.889+1665C>G
ENST00000678915.1:c.798C>G ENSP00000504805.1:p.Tyr266Ter
ENST00000679224.1:c.567C>G ENSP00000504475.1:p.Tyr189Ter