Canonical Allele Identifier: CA350293244

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202074245A>C (hg19) ; chr2:g.201209522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209522A>C , CM000664.2:g.201209522A>C	GRCh38
NC_000002.11:g.202074245A>C , CM000664.1:g.202074245A>C	GRCh37
NC_000002.10:g.201782490A>C	NCBI36
NG_007265.1:g.31391A>C , LRG_33:g.31391A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1174A>C	ENSP00000314599.7:p.Ile392Leu
ENST00000346817.10:c.1246A>C	ENSP00000237865.7:p.Ile416Leu
ENST00000438843.6:c.*832A>C	ENSP00000401914.1:n.*832A>C
ENST00000492363.6:c.*461A>C	ENSP00000512459.1:n.*461A>C
ENST00000696199.1:c.721+5756A>C	ENSP00000512481.1:n.721+5756A>C
ENST00000286186.11:c.1375A>C MANE Select	ENSP00000286186.6:p.Ile459Leu
ENST00000272879.9:c.1375A>C	ENSP00000272879.5:p.Ile459Leu
ENST00000286186.10:c.1375A>C	ENSP00000286186.6:p.Ile459Leu
ENST00000313728.11:c.1174A>C	ENSP00000314599.7:p.Ile392Leu
ENST00000346817.9:c.1246A>C	ENSP00000237865.7:p.Ile416Leu
ENST00000360132.7:c.*461A>C	ENSP00000353250.3:n.*461A>C
ENST00000448480.1:c.1246A>C	ENSP00000396835.1:p.Ile416Leu
ENST00000492363.5:n.1283A>C
NM_001206524.1:c.1174A>C	NP_001193453.1:p.Ile392Leu
NM_001206542.1:c.1246A>C	NP_001193471.1:p.Ile416Leu
NM_001230.4:c.1246A>C	NP_001221.2:p.Ile416Leu
NM_032974.4:c.1375A>C	NP_116756.2:p.Ile459Leu
NM_032976.3:c.*461A>C	NP_116758.1:n.*461A>C
NM_032977.3:c.1375A>C , LRG_33t1:c.1375A>C	NP_116759.2:p.Ile459Leu
XM_005246907.2:c.1372A>C	XP_005246964.1:p.Ile458Leu
XM_006712796.2:c.625A>C	XP_006712859.1:p.Ile209Leu
XM_006712796.3:c.625A>C	XP_006712859.1:p.Ile209Leu
NM_001206524.2:c.1174A>C	NP_001193453.1:p.Ile392Leu
NM_001206542.2:c.1246A>C	NP_001193471.1:p.Ile416Leu
NM_001230.5:c.1246A>C	NP_001221.2:p.Ile416Leu
NM_032974.5:c.1375A>C	NP_116756.2:p.Ile459Leu
NM_032977.4:c.1375A>C MANE Select	NP_116759.2:p.Ile459Leu
NM_032976.4:c.*461A>C	NP_116758.1:n.*461A>C