Canonical Allele Identifier: CA382025173
Community Standard Title: NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88309234G>C , CM000673.2:g.88309234G>C GRCh38
NC_000011.9:g.88042402G>C , CM000673.1:g.88042402G>C GRCh37
NC_000011.8:g.87682050G>C NCBI36
NG_007952.1:g.33540C>G , LRG_50:g.33540C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.570C>G MANE Select NP_001805.4:p.Tyr190Ter
ENST00000227266.10:c.570C>G MANE Select ENSP00000227266.4:p.Tyr190Ter
NM_001814.4:c.570C>G , LRG_50t1:c.570C>G NP_001805.3:p.Tyr190Ter
NM_001814.5:c.570C>G NP_001805.3:p.Tyr190Ter
ENST00000227266.9:c.570C>G ENSP00000227266.4:p.Tyr190Ter
ENST00000527018.5:c.440C>G
ENST00000527018.6:c.570C>G ENSP00000432556.2:p.Tyr190Ter
ENST00000533897.2:n.618C>G
ENST00000676612.1:c.*377C>G ENSP00000504440.1:n.*377C>G
ENST00000677208.1:c.*76C>G ENSP00000504347.1:n.*76C>G
ENST00000677661.1:c.*247C>G ENSP00000503323.1:n.*247C>G
ENST00000677802.1:c.*247C>G ENSP00000504115.1:n.*247C>G
ENST00000678065.1:n.130C>G
ENST00000678395.1:c.*76C>G ENSP00000503123.1:n.*76C>G
ENST00000678464.1:c.570C>G ENSP00000503046.1:p.Tyr190Ter
ENST00000678506.1:c.531C>G ENSP00000503580.1:p.Tyr177Ter
ENST00000678520.1:c.*292+3154C>G ENSP00000503361.1:n.*292+3154C>G
ENST00000678554.1:c.570C>G ENSP00000504541.1:p.Tyr190Ter
ENST00000678915.1:c.570C>G ENSP00000504805.1:p.Tyr190Ter
ENST00000679224.1:c.207C>G ENSP00000504475.1:p.Tyr69Ter