Canonical Allele Identifier: CA430829611

Gene: CASP10

Linked Data

• ClinVar Variation Id: 1338169
• ClinVar RCV Id: RCV001822767 ; RCV002542688
• dbSNP Id: rs2126048239
• MyVariant Identifiers: chr2:g.202074119C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209396C>T , CM000664.2:g.201209396C>T	GRCh38
NC_000002.11:g.202074119C>T , CM000664.1:g.202074119C>T	GRCh37
NC_000002.10:g.201782364C>T	NCBI36
NG_007265.1:g.31265C>T , LRG_33:g.31265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313728.12:c.1048C>T	ENSP00000314599.7:p.Leu350=
ENST00000346817.10:c.1120C>T	ENSP00000237865.7:p.Leu374=
ENST00000438843.6:c.*706C>T	ENSP00000401914.1:n.*706C>T
ENST00000492363.6:c.*335C>T	ENSP00000512459.1:n.*335C>T
ENST00000696199.1:c.721+5630C>T	ENSP00000512481.1:n.721+5630C>T
ENST00000286186.11:c.1249C>T MANE Select	ENSP00000286186.6:p.Leu417=
ENST00000272879.9:c.1249C>T	ENSP00000272879.5:p.Leu417=
ENST00000286186.10:c.1249C>T	ENSP00000286186.6:p.Leu417=
ENST00000313728.11:c.1048C>T	ENSP00000314599.7:p.Leu350=
ENST00000346817.9:c.1120C>T	ENSP00000237865.7:p.Leu374=
ENST00000360132.7:c.*335C>T	ENSP00000353250.3:n.*335C>T
ENST00000448480.1:c.1120C>T	ENSP00000396835.1:p.Leu374=
ENST00000492363.5:n.1157C>T
NM_001206524.1:c.1048C>T	NP_001193453.1:p.Leu350=
NM_001206542.1:c.1120C>T	NP_001193471.1:p.Leu374=
NM_001230.4:c.1120C>T	NP_001221.2:p.Leu374=
NM_032974.4:c.1249C>T	NP_116756.2:p.Leu417=
NM_032976.3:c.*335C>T	NP_116758.1:n.*335C>T
NM_032977.3:c.1249C>T , LRG_33t1:c.1249C>T	NP_116759.2:p.Leu417=
XM_005246907.2:c.1246C>T	XP_005246964.1:p.Leu416=
XM_006712796.2:c.499C>T	XP_006712859.1:p.Leu167=
XM_006712796.3:c.499C>T	XP_006712859.1:p.Leu167=
NM_001206524.2:c.1048C>T	NP_001193453.1:p.Leu350=
NM_001206542.2:c.1120C>T	NP_001193471.1:p.Leu374=
NM_001230.5:c.1120C>T	NP_001221.2:p.Leu374=
NM_032974.5:c.1249C>T	NP_116756.2:p.Leu417=
NM_032977.4:c.1249C>T MANE Select	NP_116759.2:p.Leu417=
NM_032976.4:c.*335C>T	NP_116758.1:n.*335C>T