Canonical Allele Identifier: CA405711840

Gene: CAPN12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38736141G>T , CM000681.2:g.38736141G>T	GRCh38
NC_000019.9:g.39226781G>T , CM000681.1:g.39226781G>T	GRCh37
NC_000019.8:g.43918621G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144691.4:c.1552C>A MANE Select	NP_653292.2:p.Arg518Ser
ENST00000328867.9:c.1552C>A MANE Select	ENSP00000331636.3:p.Arg518Ser
ENST00000328867.8:c.1552C>A	ENSP00000331636.3:p.Arg518Ser
ENST00000597716.1:n.618C>A
ENST00000601953.5:c.1105C>A	ENSP00000473156.1:p.Arg369Ser
XM_011526518.1:c.1579C>A	XP_011524820.1:p.Arg527Ser
XM_011526519.1:c.1579C>A	XP_011524821.1:p.Arg527Ser
XM_011526520.1:c.1579C>A	XP_011524822.1:p.Arg527Ser
XM_011526521.1:c.1579C>A	XP_011524823.1:p.Arg527Ser
XM_011526522.1:c.1579C>A	XP_011524824.1:p.Arg527Ser
XM_011526523.1:c.1579C>A	XP_011524825.1:p.Arg527Ser
XM_011526524.1:c.994C>A	XP_011524826.1:p.Arg332Ser
XM_011526525.1:c.658C>A	XP_011524827.1:p.Arg220Ser
XM_017026355.2:c.1552C>A	XP_016881844.1:p.Arg518Ser
XM_017026356.2:c.1552C>A	XP_016881845.1:p.Arg518Ser
XM_017026357.2:c.1552C>A	XP_016881846.1:p.Arg518Ser
XM_017026358.2:c.1552C>A	XP_016881847.1:p.Arg518Ser
XM_017026359.2:c.1552C>A	XP_016881848.1:p.Arg518Ser
XM_017026360.2:c.1552C>A	XP_016881849.1:p.Arg518Ser
XM_017026361.2:c.1552C>A	XP_016881850.1:p.Arg518Ser
XM_017026362.2:c.1552C>A	XP_016881851.1:p.Arg518Ser
XM_017026363.2:c.1552C>A	XP_016881852.1:p.Arg518Ser
XM_017026364.1:c.967C>A	XP_016881853.1:p.Arg323Ser
XM_017026365.2:c.*11C>A	XP_016881854.1:n.*11C>A
XR_001753606.2:n.1562C>A
XR_001753607.2:n.1562C>A
XR_001753608.2:n.1562C>A
XR_001753609.2:n.1562C>A
XR_001753610.2:n.1562C>A
XR_001753611.2:n.1562C>A
XR_935749.1:n.1888C>A
XR_935750.1:n.1888C>A