Canonical Allele Identifier: CA476145205
Gene: CTSC HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.88027579A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88294411A>G , CM000673.2:g.88294411A>G GRCh38
NC_000011.9:g.88027579A>G , CM000673.1:g.88027579A>G GRCh37
NC_000011.8:g.87667227A>G NCBI36
NG_007952.1:g.48363T>C , LRG_50:g.48363T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000227266.10:c.987T>C MANE Select ENSP00000227266.4:p.Ser329=
ENST00000533897.2:n.5300T>C
ENST00000676612.1:c.*794T>C ENSP00000504440.1:n.*794T>C
ENST00000677208.1:c.*493T>C ENSP00000504347.1:n.*493T>C
ENST00000677661.1:c.*664T>C ENSP00000503323.1:n.*664T>C
ENST00000677802.1:c.*664T>C ENSP00000504115.1:n.*664T>C
ENST00000678395.1:c.*493T>C ENSP00000503123.1:n.*493T>C
ENST00000678464.1:c.954T>C ENSP00000503046.1:p.Ser318=
ENST00000678506.1:c.948T>C ENSP00000503580.1:p.Ser316=
ENST00000678520.1:c.*638T>C ENSP00000503361.1:n.*638T>C
ENST00000678554.1:c.889+1722T>C ENSP00000504541.1:n.889+1722T>C
ENST00000678915.1:c.855T>C ENSP00000504805.1:p.Ser285=
ENST00000679224.1:c.624T>C ENSP00000504475.1:p.Ser208=
ENST00000227266.9:c.987T>C ENSP00000227266.4:p.Ser329=
ENST00000533897.1:n.3721T>C
NM_001814.4:c.987T>C , LRG_50t1:c.987T>C NP_001805.3:p.Ser329=
NM_001814.5:c.987T>C NP_001805.3:p.Ser329=
NM_001814.6:c.987T>C MANE Select NP_001805.4:p.Ser329=