Canonical Allele Identifier: CA475929662
Gene: CTSC HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.88045663C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88312495C>G , CM000673.2:g.88312495C>G GRCh38
NC_000011.9:g.88045663C>G , CM000673.1:g.88045663C>G GRCh37
NC_000011.8:g.87685311C>G NCBI36
NG_007952.1:g.30279G>C , LRG_50:g.30279G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.378G>C MANE Select ENSP00000227266.4:p.Val126=
ENST00000527018.6:c.378G>C ENSP00000432556.2:p.Val126=
ENST00000533897.2:n.426G>C
ENST00000676612.1:c.*185G>C ENSP00000504440.1:n.*185G>C
ENST00000677208.1:c.319-3177G>C ENSP00000504347.1:n.319-3177G>C
ENST00000677661.1:c.*55G>C ENSP00000503323.1:n.*55G>C
ENST00000677802.1:c.*55G>C ENSP00000504115.1:n.*55G>C
ENST00000678395.1:c.378G>C ENSP00000503123.1:p.Val126=
ENST00000678464.1:c.378G>C ENSP00000503046.1:p.Val126=
ENST00000678506.1:c.378G>C ENSP00000503580.1:p.Val126=
ENST00000678520.1:c.*185G>C ENSP00000503361.1:n.*185G>C
ENST00000678554.1:c.378G>C ENSP00000504541.1:p.Val126=
ENST00000678915.1:c.378G>C ENSP00000504805.1:p.Val126=
ENST00000679224.1:c.15G>C ENSP00000504475.1:p.Val5=
ENST00000227266.9:c.378G>C ENSP00000227266.4:p.Val126=
ENST00000527018.5:c.248G>C
ENST00000533865.5:n.400G>C
NM_001814.4:c.378G>C , LRG_50t1:c.378G>C NP_001805.3:p.Val126=
NM_001814.5:c.378G>C NP_001805.3:p.Val126=
NM_001814.6:c.378G>C MANE Select NP_001805.4:p.Val126=