Canonical Allele Identifier: CA9419251

Gene: CAPN12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38742502C>T , CM000681.2:g.38742502C>T	GRCh38
NC_000019.9:g.39233142C>T , CM000681.1:g.39233142C>T	GRCh37
NC_000019.8:g.43924982C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144691.4:c.334G>A MANE Select	NP_653292.2:p.Ala112Thr
ENST00000328867.9:c.334G>A MANE Select	ENSP00000331636.3:p.Ala112Thr
ENST00000328867.8:c.334G>A	ENSP00000331636.3:p.Ala112Thr
ENST00000597740.1:c.*83G>A	ENSP00000471510.1:n.*83G>A
ENST00000598684.5:c.313G>A	ENSP00000470233.1:p.Ala105Thr
ENST00000601953.5:c.-114G>A	ENSP00000473156.1:n.-114G>A
XM_011526518.1:c.334G>A	XP_011524820.1:p.Ala112Thr
XM_011526519.1:c.334G>A	XP_011524821.1:p.Ala112Thr
XM_011526520.1:c.334G>A	XP_011524822.1:p.Ala112Thr
XM_011526521.1:c.334G>A	XP_011524823.1:p.Ala112Thr
XM_011526522.1:c.334G>A	XP_011524824.1:p.Ala112Thr
XM_011526523.1:c.334G>A	XP_011524825.1:p.Ala112Thr
XM_011526524.1:c.-187G>A	XP_011524826.1:n.-187G>A
XM_017026355.2:c.334G>A	XP_016881844.1:p.Ala112Thr
XM_017026356.2:c.334G>A	XP_016881845.1:p.Ala112Thr
XM_017026357.2:c.334G>A	XP_016881846.1:p.Ala112Thr
XM_017026358.2:c.334G>A	XP_016881847.1:p.Ala112Thr
XM_017026359.2:c.334G>A	XP_016881848.1:p.Ala112Thr
XM_017026360.2:c.334G>A	XP_016881849.1:p.Ala112Thr
XM_017026361.2:c.334G>A	XP_016881850.1:p.Ala112Thr
XM_017026362.2:c.334G>A	XP_016881851.1:p.Ala112Thr
XM_017026363.2:c.334G>A	XP_016881852.1:p.Ala112Thr
XM_017026364.1:c.-187G>A	XP_016881853.1:n.-187G>A
XM_017026365.2:c.334G>A	XP_016881854.1:p.Ala112Thr
XR_001753606.2:n.344G>A
XR_001753607.2:n.344G>A
XR_001753608.2:n.344G>A
XR_001753609.2:n.344G>A
XR_001753610.2:n.344G>A
XR_001753611.2:n.344G>A
XR_935749.1:n.643G>A
XR_935750.1:n.643G>A