Canonical Allele Identifier: CA350292313

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202074120T>G (hg19) ; chr2:g.201209397T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209397T>G , CM000664.2:g.201209397T>G	GRCh38
NC_000002.11:g.202074120T>G , CM000664.1:g.202074120T>G	GRCh37
NC_000002.10:g.201782365T>G	NCBI36
NG_007265.1:g.31266T>G , LRG_33:g.31266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1049T>G	ENSP00000314599.7:p.Leu350Arg
ENST00000346817.10:c.1121T>G	ENSP00000237865.7:p.Leu374Arg
ENST00000438843.6:c.*707T>G	ENSP00000401914.1:n.*707T>G
ENST00000492363.6:c.*336T>G	ENSP00000512459.1:n.*336T>G
ENST00000696199.1:c.721+5631T>G	ENSP00000512481.1:n.721+5631T>G
ENST00000286186.11:c.1250T>G MANE Select	ENSP00000286186.6:p.Leu417Arg
ENST00000272879.9:c.1250T>G	ENSP00000272879.5:p.Leu417Arg
ENST00000286186.10:c.1250T>G	ENSP00000286186.6:p.Leu417Arg
ENST00000313728.11:c.1049T>G	ENSP00000314599.7:p.Leu350Arg
ENST00000346817.9:c.1121T>G	ENSP00000237865.7:p.Leu374Arg
ENST00000360132.7:c.*336T>G	ENSP00000353250.3:n.*336T>G
ENST00000448480.1:c.1121T>G	ENSP00000396835.1:p.Leu374Arg
ENST00000492363.5:n.1158T>G
NM_001206524.1:c.1049T>G	NP_001193453.1:p.Leu350Arg
NM_001206542.1:c.1121T>G	NP_001193471.1:p.Leu374Arg
NM_001230.4:c.1121T>G	NP_001221.2:p.Leu374Arg
NM_032974.4:c.1250T>G	NP_116756.2:p.Leu417Arg
NM_032976.3:c.*336T>G	NP_116758.1:n.*336T>G
NM_032977.3:c.1250T>G , LRG_33t1:c.1250T>G	NP_116759.2:p.Leu417Arg
XM_005246907.2:c.1247T>G	XP_005246964.1:p.Leu416Arg
XM_006712796.2:c.500T>G	XP_006712859.1:p.Leu167Arg
XM_006712796.3:c.500T>G	XP_006712859.1:p.Leu167Arg
NM_001206524.2:c.1049T>G	NP_001193453.1:p.Leu350Arg
NM_001206542.2:c.1121T>G	NP_001193471.1:p.Leu374Arg
NM_001230.5:c.1121T>G	NP_001221.2:p.Leu374Arg
NM_032974.5:c.1250T>G	NP_116756.2:p.Leu417Arg
NM_032977.4:c.1250T>G MANE Select	NP_116759.2:p.Leu417Arg
NM_032976.4:c.*336T>G	NP_116758.1:n.*336T>G