Canonical Allele Identifier: CA227456110

Gene: CASP12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.104897225A>C , CM000673.2:g.104897225A>C	GRCh38
NC_000011.9:g.104767952A>C , CM000673.1:g.104767952A>C	GRCh37
NC_000011.8:g.104273162A>C	NCBI36
NG_028201.2:g.6446T>G

Transcript Alleles

HGVS	Amino-acid Change
NR_034061.2:n.507T>G
NR_034061.3:n.297T>G
NR_034063.2:n.507T>G
NR_034063.3:n.297T>G
NR_034064.2:n.507T>G
NR_034064.3:n.297T>G
NR_034065.2:n.507T>G
NR_034065.3:n.297T>G
NR_034066.2:n.263+1183T>G
NR_034066.3:n.53+1183T>G
NR_034067.2:n.507T>G
NR_034067.3:n.297T>G
NR_034068.2:n.263+1183T>G
NR_034068.3:n.53+1183T>G
NR_034070.2:n.507T>G
NR_034070.3:n.297T>G
NR_034071.2:n.507T>G
NR_034071.3:n.297T>G
ENST00000375726.6:c.251T>G	ENSP00000424038.1:p.Leu84Arg
ENST00000417998.5:c.251T>G	ENSP00000424963.1:p.Leu84Arg
ENST00000422698.6:c.251T>G	ENSP00000427128.2:p.Leu84Arg
ENST00000433738.5:c.7+1183T>G	ENSP00000427437.1:n.7+1183T>G
ENST00000441710.5:c.251T>G	ENSP00000423970.1:p.Leu84Arg
ENST00000446862.5:c.251T>G	ENSP00000425652.1:p.Leu84Arg
ENST00000447913.5:c.7+1183T>G	ENSP00000426427.1:n.7+1183T>G
ENST00000448103.5:c.251T>G	ENSP00000423899.1:p.Leu84Arg
ENST00000458137.5:c.251T>G	ENSP00000421408.1:p.Leu84Arg
ENST00000494737.5:c.251T>G	ENSP00000421815.1:p.Leu84Arg
ENST00000508062.1:c.7+1183T>G	ENSP00000426566.1:n.7+1183T>G
ENST00000613512.4:c.251T>G	ENSP00000482745.1:p.Leu84Arg
ENST00000703420.1:c.251T>G	ENSP00000515267.1:p.Leu84Arg