Canonical Allele Identifier: CA2053048
Gene: CASP10 HGNC NCBI

Linked Data

ClinVar Variation Id: 849666
ClinVar RCV Id: RCV001796842
dbSNP Id: rs148554420

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201205957C>T , CM000664.2:g.201205957C>T GRCh38
NC_000002.11:g.202070680C>T , CM000664.1:g.202070680C>T GRCh37
NC_000002.10:g.201778925C>T NCBI36
NG_007265.1:g.27826C>T , LRG_33:g.27826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313728.12:c.721+2191C>T ENSP00000314599.7:n.721+2191C>T
ENST00000346817.10:c.685-2118C>T ENSP00000237865.7:n.685-2118C>T
ENST00000438843.6:c.*271-2118C>T ENSP00000401914.1:n.*271-2118C>T
ENST00000492363.6:c.722-2118C>T ENSP00000512459.1:n.722-2118C>T
ENST00000696199.1:c.721+2191C>T ENSP00000512481.1:n.721+2191C>T
ENST00000286186.11:c.797C>T MANE Select ENSP00000286186.6:p.Ser266Phe
ENST00000272879.9:c.797C>T ENSP00000272879.5:p.Ser266Phe
ENST00000286186.10:c.797C>T ENSP00000286186.6:p.Ser266Phe
ENST00000313728.11:c.721+2191C>T ENSP00000314599.7:n.721+2191C>T
ENST00000346817.9:c.685-2118C>T ENSP00000237865.7:n.685-2118C>T
ENST00000360132.7:c.722-2118C>T ENSP00000353250.3:n.722-2118C>T
ENST00000438843.5:c.*271-2118C>T ENSP00000401914.1:n.*271-2118C>T
ENST00000448480.1:c.685-2118C>T ENSP00000396835.1:n.685-2118C>T
ENST00000460140.5:n.1001C>T
ENST00000492363.5:n.722-2118C>T
NM_001206524.1:c.721+2191C>T NP_001193453.1:n.721+2191C>T
NM_001206542.1:c.685-2118C>T NP_001193471.1:n.685-2118C>T
NM_001230.4:c.685-2118C>T NP_001221.2:n.685-2118C>T
NM_032974.4:c.797C>T NP_116756.2:p.Ser266Phe
NM_032976.3:c.722-2118C>T NP_116758.1:n.722-2118C>T
NM_032977.3:c.797C>T , LRG_33t1:c.797C>T NP_116759.2:p.Ser266Phe
XM_005246907.2:c.794C>T XP_005246964.1:p.Ser265Phe
XM_006712796.2:c.64-2118C>T XP_006712859.1:n.64-2118C>T
XM_011511990.1:c.719-2118C>T XP_011510292.1:n.719-2118C>T
XR_923043.1:n.1001C>T
XR_923044.1:n.926-2118C>T
XM_006712796.3:c.64-2118C>T XP_006712859.1:n.64-2118C>T
XM_011511990.2:c.719-2118C>T XP_011510292.1:n.719-2118C>T
XR_923043.2:n.1001C>T
XR_923044.2:n.926-2118C>T
NM_001206524.2:c.721+2191C>T NP_001193453.1:n.721+2191C>T
NM_001206542.2:c.685-2118C>T NP_001193471.1:n.685-2118C>T
NM_001230.5:c.685-2118C>T NP_001221.2:n.685-2118C>T
NM_032974.5:c.797C>T NP_116756.2:p.Ser266Phe
NM_032977.4:c.797C>T MANE Select NP_116759.2:p.Ser266Phe
NM_032976.4:c.722-2118C>T NP_116758.1:n.722-2118C>T