Canonical Allele Identifier: CA9418273

Gene: ACTN4 CAPN12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38731146G>A , CM000681.2:g.38731146G>A	GRCh38
NC_000019.9:g.39221786G>A , CM000681.1:g.39221786G>A	GRCh37
NC_000019.8:g.43913626G>A	NCBI36
NG_007082.2:g.88460G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004924.6:c.*1714G>A (ACTN4) MANE Select	NP_004915.2:n.*1714G>A
NM_144691.4:c.2035C>T (CAPN12) MANE Select	NP_653292.2:p.Arg679Trp
ENST00000252699.7:c.*1714G>A (ACTN4) MANE Select	ENSP00000252699.2:n.*1714G>A
ENST00000328867.9:c.2035C>T (CAPN12) MANE Select	ENSP00000331636.3:p.Arg679Trp
NM_001322033.2:c.*1714G>A (ACTN4)	NP_001308962.1:n.*1714G>A
ENST00000252699.6:c.*1714G>A (ACTN4)	ENSP00000252699.2:n.*1714G>A
ENST00000328867.8:c.2035C>T (CAPN12)	ENSP00000331636.3:p.Arg679Trp
ENST00000440400.1:c.2743G>A (ACTN4)	ENSP00000398393.1:n.2743G>A
ENST00000440400.2:c.*1714G>A (ACTN4)	ENSP00000398393.2:n.*1714G>A
ENST00000440400.3:c.*1714G>A (ACTN4)	ENSP00000398393.2:n.*1714G>A
ENST00000593700.5:n.599C>T (CAPN12)
ENST00000594552.5:c.256C>T (CAPN12)
ENST00000595177.1:c.189C>T (CAPN12)
ENST00000597716.1:n.1755C>T (CAPN12)
ENST00000597987.5:c.193C>T (CAPN12)	ENSP00000470760.1:p.Arg65Trp
ENST00000601953.5:c.1588C>T (CAPN12)	ENSP00000473156.1:p.Arg530Trp
ENST00000697712.1:c.4309G>A (ACTN4)	ENSP00000513410.1:n.4309G>A
XM_011526518.1:c.2062C>T (CAPN12)	XP_011524820.1:p.Arg688Trp
XM_011526519.1:c.2062C>T (CAPN12)	XP_011524821.1:p.Arg688Trp
XM_011526520.1:c.1999C>T (CAPN12)	XP_011524822.1:p.Arg667Trp
XM_011526522.1:c.*66C>T (CAPN12)	XP_011524824.1:n.*66C>T
XM_011526523.1:c.*66C>T (CAPN12)	XP_011524825.1:n.*66C>T
XM_011526524.1:c.1477C>T (CAPN12)	XP_011524826.1:p.Arg493Trp
XM_011526525.1:c.1141C>T (CAPN12)	XP_011524827.1:p.Arg381Trp
XM_017026355.2:c.2047C>T (CAPN12)	XP_016881844.1:p.Arg683Trp
XM_017026356.2:c.1984C>T (CAPN12)	XP_016881845.1:p.Arg662Trp
XM_017026357.2:c.1975C>T (CAPN12)	XP_016881846.1:p.Arg659Trp
XM_017026358.2:c.1972C>T (CAPN12)	XP_016881847.1:p.Arg658Trp
XM_017026360.2:c.1834C>T (CAPN12)	XP_016881849.1:p.Arg612Trp
XM_017026363.2:c.*66C>T (CAPN12)	XP_016881852.1:n.*66C>T
XM_017026364.1:c.1462C>T (CAPN12)	XP_016881853.1:p.Arg488Trp
XR_001753606.2:n.2146C>T (CAPN12)
XR_001753607.2:n.2115C>T (CAPN12)
XR_001753608.2:n.2052C>T (CAPN12)
XR_001753609.2:n.1981C>T (CAPN12)
XR_001753610.2:n.1924C>T (CAPN12)
XR_001753611.2:n.1911C>T (CAPN12)
XR_935750.1:n.2237C>T (CAPN12)