Canonical Allele Identifier: CA350287020
Gene: CASP10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1541468
ClinVar RCV Id: RCV002157434
dbSNP Id: rs2126046002

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201208173T>C , CM000664.2:g.201208173T>C GRCh38
NC_000002.11:g.202072896T>C , CM000664.1:g.202072896T>C GRCh37
NC_000002.10:g.201781141T>C NCBI36
NG_007265.1:g.30042T>C , LRG_33:g.30042T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313728.12:c.722-897T>C ENSP00000314599.7:n.722-897T>C
ENST00000346817.10:c.783T>C ENSP00000237865.7:p.His261=
ENST00000438843.6:c.*369T>C ENSP00000401914.1:n.*369T>C
ENST00000492363.6:c.820T>C ENSP00000512459.1:p.Ter274Gln
ENST00000696199.1:c.721+4407T>C ENSP00000512481.1:n.721+4407T>C
ENST00000286186.11:c.912T>C MANE Select ENSP00000286186.6:p.His304=
ENST00000272879.9:c.912T>C ENSP00000272879.5:p.His304=
ENST00000286186.10:c.912T>C ENSP00000286186.6:p.His304=
ENST00000313728.11:c.722-897T>C ENSP00000314599.7:n.722-897T>C
ENST00000346817.9:c.783T>C ENSP00000237865.7:p.His261=
ENST00000360132.7:c.820T>C ENSP00000353250.3:p.Ter274Gln
ENST00000448480.1:c.783T>C ENSP00000396835.1:p.His261=
ENST00000492363.5:n.820T>C
NM_001206524.1:c.722-897T>C NP_001193453.1:n.722-897T>C
NM_001206542.1:c.783T>C NP_001193471.1:p.His261=
NM_001230.4:c.783T>C NP_001221.2:p.His261=
NM_032974.4:c.912T>C NP_116756.2:p.His304=
NM_032976.3:c.820T>C NP_116758.1:p.Ter274Gln
NM_032977.3:c.912T>C , LRG_33t1:c.912T>C NP_116759.2:p.His304=
XM_005246907.2:c.909T>C XP_005246964.1:p.His303=
XM_006712796.2:c.162T>C XP_006712859.1:p.His54=
XM_011511990.1:c.817T>C XP_011510292.1:p.Ter273Gln
XR_923043.1:n.1116T>C
XR_923044.1:n.1024T>C
XM_006712796.3:c.162T>C XP_006712859.1:p.His54=
XM_011511990.2:c.817T>C XP_011510292.1:p.Ter273Gln
XR_923043.2:n.1116T>C
XR_923044.2:n.1024T>C
NM_001206524.2:c.722-897T>C NP_001193453.1:n.722-897T>C
NM_001206542.2:c.783T>C NP_001193471.1:p.His261=
NM_001230.5:c.783T>C NP_001221.2:p.His261=
NM_032974.5:c.912T>C NP_116756.2:p.His304=
NM_032977.4:c.912T>C MANE Select NP_116759.2:p.His304=
NM_032976.4:c.820T>C NP_116758.1:p.Ter274Gln