Canonical Allele Identifier: CA475929666
Gene: CTSC HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.88045672A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88312504A>C , CM000673.2:g.88312504A>C GRCh38
NC_000011.9:g.88045672A>C , CM000673.1:g.88045672A>C GRCh37
NC_000011.8:g.87685320A>C NCBI36
NG_007952.1:g.30270T>G , LRG_50:g.30270T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.369T>G MANE Select ENSP00000227266.4:p.Thr123=
ENST00000527018.6:c.369T>G ENSP00000432556.2:p.Thr123=
ENST00000533897.2:n.417T>G
ENST00000676612.1:c.*176T>G ENSP00000504440.1:n.*176T>G
ENST00000677208.1:c.319-3186T>G ENSP00000504347.1:n.319-3186T>G
ENST00000677661.1:c.*46T>G ENSP00000503323.1:n.*46T>G
ENST00000677802.1:c.*46T>G ENSP00000504115.1:n.*46T>G
ENST00000678395.1:c.369T>G ENSP00000503123.1:p.Thr123=
ENST00000678464.1:c.369T>G ENSP00000503046.1:p.Thr123=
ENST00000678506.1:c.369T>G ENSP00000503580.1:p.Thr123=
ENST00000678520.1:c.*176T>G ENSP00000503361.1:n.*176T>G
ENST00000678554.1:c.369T>G ENSP00000504541.1:p.Thr123=
ENST00000678915.1:c.369T>G ENSP00000504805.1:p.Thr123=
ENST00000679224.1:c.6T>G ENSP00000504475.1:p.Thr2=
ENST00000227266.9:c.369T>G ENSP00000227266.4:p.Thr123=
ENST00000527018.5:c.239T>G
ENST00000533865.5:n.391T>G
NM_001814.4:c.369T>G , LRG_50t1:c.369T>G NP_001805.3:p.Thr123=
NM_001814.5:c.369T>G NP_001805.3:p.Thr123=
NM_001814.6:c.369T>G MANE Select NP_001805.4:p.Thr123=