Canonical Allele Identifier: CA6219965
Community Standard Title: NM_001814.6(CTSC):c.395G>A (p.Arg132Gln)
Gene: CTSC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.88312478C>T , CM000673.2:g.88312478C>T GRCh38
NC_000011.9:g.88045646C>T , CM000673.1:g.88045646C>T GRCh37
NC_000011.8:g.87685294C>T NCBI36
NG_007952.1:g.30296G>A , LRG_50:g.30296G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001814.6:c.395G>A MANE Select NP_001805.4:p.Arg132Gln
ENST00000227266.10:c.395G>A MANE Select ENSP00000227266.4:p.Arg132Gln
NM_001814.4:c.395G>A , LRG_50t1:c.395G>A NP_001805.3:p.Arg132Gln
NM_001814.5:c.395G>A NP_001805.3:p.Arg132Gln
ENST00000227266.9:c.395G>A ENSP00000227266.4:p.Arg132Gln
ENST00000527018.5:c.265G>A
ENST00000527018.6:c.395G>A ENSP00000432556.2:p.Arg132Gln
ENST00000533865.5:n.417G>A
ENST00000533897.2:n.443G>A
ENST00000676612.1:c.*202G>A ENSP00000504440.1:n.*202G>A
ENST00000677208.1:c.319-3160G>A ENSP00000504347.1:n.319-3160G>A
ENST00000677661.1:c.*72G>A ENSP00000503323.1:n.*72G>A
ENST00000677802.1:c.*72G>A ENSP00000504115.1:n.*72G>A
ENST00000678395.1:c.395G>A ENSP00000503123.1:p.Arg132Gln
ENST00000678464.1:c.395G>A ENSP00000503046.1:p.Arg132Gln
ENST00000678506.1:c.395G>A ENSP00000503580.1:p.Arg132Gln
ENST00000678520.1:c.*202G>A ENSP00000503361.1:n.*202G>A
ENST00000678554.1:c.395G>A ENSP00000504541.1:p.Arg132Gln
ENST00000678915.1:c.395G>A ENSP00000504805.1:p.Arg132Gln
ENST00000679224.1:c.32G>A ENSP00000504475.1:p.Arg11Gln