Canonical Allele Identifier: CA9418721

Gene: CAPN12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38736287T>C , CM000681.2:g.38736287T>C	GRCh38
NC_000019.9:g.39226927T>C , CM000681.1:g.39226927T>C	GRCh37
NC_000019.8:g.43918767T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328867.9:c.1406A>G MANE Select	ENSP00000331636.3:p.His469Arg
ENST00000328867.8:c.1406A>G	ENSP00000331636.3:p.His469Arg
ENST00000597716.1:n.472A>G
ENST00000601953.5:c.959A>G	ENSP00000473156.1:p.His320Arg
NM_144691.4:c.1406A>G MANE Select	NP_653292.2:p.His469Arg
XM_011526518.1:c.1433A>G	XP_011524820.1:p.His478Arg
XM_011526519.1:c.1433A>G	XP_011524821.1:p.His478Arg
XM_011526520.1:c.1433A>G	XP_011524822.1:p.His478Arg
XM_011526521.1:c.1433A>G	XP_011524823.1:p.His478Arg
XM_011526522.1:c.1433A>G	XP_011524824.1:p.His478Arg
XM_011526523.1:c.1433A>G	XP_011524825.1:p.His478Arg
XM_011526524.1:c.848A>G	XP_011524826.1:p.His283Arg
XM_011526525.1:c.512A>G	XP_011524827.1:p.His171Arg
XR_935749.1:n.1742A>G
XR_935750.1:n.1742A>G
XM_017026355.2:c.1406A>G	XP_016881844.1:p.His469Arg
XM_017026356.2:c.1406A>G	XP_016881845.1:p.His469Arg
XM_017026357.2:c.1406A>G	XP_016881846.1:p.His469Arg
XM_017026358.2:c.1406A>G	XP_016881847.1:p.His469Arg
XM_017026359.2:c.1406A>G	XP_016881848.1:p.His469Arg
XM_017026360.2:c.1406A>G	XP_016881849.1:p.His469Arg
XM_017026361.2:c.1406A>G	XP_016881850.1:p.His469Arg
XM_017026362.2:c.1406A>G	XP_016881851.1:p.His469Arg
XM_017026363.2:c.1406A>G	XP_016881852.1:p.His469Arg
XM_017026364.1:c.821A>G	XP_016881853.1:p.His274Arg
XM_017026365.2:c.1377A>G	XP_016881854.1:p.Pro459=
XR_001753606.2:n.1416A>G
XR_001753607.2:n.1416A>G
XR_001753608.2:n.1416A>G
XR_001753609.2:n.1416A>G
XR_001753610.2:n.1416A>G
XR_001753611.2:n.1416A>G