Canonical Allele Identifier: CA350292482
Gene: CASP10 HGNC NCBI

Linked Data

ClinVar Variation Id: 963347
ClinVar RCV Id: RCV001796862
dbSNP Id: rs1945323616

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201209429G>C , CM000664.2:g.201209429G>C GRCh38
NC_000002.11:g.202074152G>C , CM000664.1:g.202074152G>C GRCh37
NC_000002.10:g.201782397G>C NCBI36
NG_007265.1:g.31298G>C , LRG_33:g.31298G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313728.12:c.1081G>C ENSP00000314599.7:p.Asp361His
ENST00000346817.10:c.1153G>C ENSP00000237865.7:p.Asp385His
ENST00000438843.6:c.*739G>C ENSP00000401914.1:n.*739G>C
ENST00000492363.6:c.*368G>C ENSP00000512459.1:n.*368G>C
ENST00000696199.1:c.721+5663G>C ENSP00000512481.1:n.721+5663G>C
ENST00000286186.11:c.1282G>C MANE Select ENSP00000286186.6:p.Asp428His
ENST00000272879.9:c.1282G>C ENSP00000272879.5:p.Asp428His
ENST00000286186.10:c.1282G>C ENSP00000286186.6:p.Asp428His
ENST00000313728.11:c.1081G>C ENSP00000314599.7:p.Asp361His
ENST00000346817.9:c.1153G>C ENSP00000237865.7:p.Asp385His
ENST00000360132.7:c.*368G>C ENSP00000353250.3:n.*368G>C
ENST00000448480.1:c.1153G>C ENSP00000396835.1:p.Asp385His
ENST00000492363.5:n.1190G>C
NM_001206524.1:c.1081G>C NP_001193453.1:p.Asp361His
NM_001206542.1:c.1153G>C NP_001193471.1:p.Asp385His
NM_001230.4:c.1153G>C NP_001221.2:p.Asp385His
NM_032974.4:c.1282G>C NP_116756.2:p.Asp428His
NM_032976.3:c.*368G>C NP_116758.1:n.*368G>C
NM_032977.3:c.1282G>C , LRG_33t1:c.1282G>C NP_116759.2:p.Asp428His
XM_005246907.2:c.1279G>C XP_005246964.1:p.Asp427His
XM_006712796.2:c.532G>C XP_006712859.1:p.Asp178His
XM_006712796.3:c.532G>C XP_006712859.1:p.Asp178His
NM_001206524.2:c.1081G>C NP_001193453.1:p.Asp361His
NM_001206542.2:c.1153G>C NP_001193471.1:p.Asp385His
NM_001230.5:c.1153G>C NP_001221.2:p.Asp385His
NM_032974.5:c.1282G>C NP_116756.2:p.Asp428His
NM_032977.4:c.1282G>C MANE Select NP_116759.2:p.Asp428His
NM_032976.4:c.*368G>C NP_116758.1:n.*368G>C