Canonical Allele Identifier: CA308132702

Gene: CAPN12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38736182G>A , CM000681.2:g.38736182G>A	GRCh38
NC_000019.9:g.39226822G>A , CM000681.1:g.39226822G>A	GRCh37
NC_000019.8:g.43918662G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144691.4:c.1511C>T MANE Select	NP_653292.2:p.Pro504Leu
ENST00000328867.9:c.1511C>T MANE Select	ENSP00000331636.3:p.Pro504Leu
ENST00000328867.8:c.1511C>T	ENSP00000331636.3:p.Pro504Leu
ENST00000597716.1:n.577C>T
ENST00000601953.5:c.1064C>T	ENSP00000473156.1:p.Pro355Leu
XM_011526518.1:c.1538C>T	XP_011524820.1:p.Pro513Leu
XM_011526519.1:c.1538C>T	XP_011524821.1:p.Pro513Leu
XM_011526520.1:c.1538C>T	XP_011524822.1:p.Pro513Leu
XM_011526521.1:c.1538C>T	XP_011524823.1:p.Pro513Leu
XM_011526522.1:c.1538C>T	XP_011524824.1:p.Pro513Leu
XM_011526523.1:c.1538C>T	XP_011524825.1:p.Pro513Leu
XM_011526524.1:c.953C>T	XP_011524826.1:p.Pro318Leu
XM_011526525.1:c.617C>T	XP_011524827.1:p.Pro206Leu
XM_017026355.2:c.1511C>T	XP_016881844.1:p.Pro504Leu
XM_017026356.2:c.1511C>T	XP_016881845.1:p.Pro504Leu
XM_017026357.2:c.1511C>T	XP_016881846.1:p.Pro504Leu
XM_017026358.2:c.1511C>T	XP_016881847.1:p.Pro504Leu
XM_017026359.2:c.1511C>T	XP_016881848.1:p.Pro504Leu
XM_017026360.2:c.1511C>T	XP_016881849.1:p.Pro504Leu
XM_017026361.2:c.1511C>T	XP_016881850.1:p.Pro504Leu
XM_017026362.2:c.1511C>T	XP_016881851.1:p.Pro504Leu
XM_017026363.2:c.1511C>T	XP_016881852.1:p.Pro504Leu
XM_017026364.1:c.926C>T	XP_016881853.1:p.Pro309Leu
XM_017026365.2:c.1482C>T	XP_016881854.1:p.Ala494=
XR_001753606.2:n.1521C>T
XR_001753607.2:n.1521C>T
XR_001753608.2:n.1521C>T
XR_001753609.2:n.1521C>T
XR_001753610.2:n.1521C>T
XR_001753611.2:n.1521C>T
XR_935749.1:n.1847C>T
XR_935750.1:n.1847C>T