Canonical Allele Identifier: CA6093189

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65187224G>A , CM000673.2:g.65187224G>A	GRCh38
NC_000011.9:g.64954695G>A , CM000673.1:g.64954695G>A	GRCh37
NC_000011.8:g.64711271G>A	NCBI36
NG_052817.1:g.11010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.769G>A MANE Select	ENSP00000279247.7:p.Val257Ile
ENST00000279247.10:c.769G>A	ENSP00000279247.6:p.Val257Ile
ENST00000524773.5:c.769G>A	ENSP00000434176.1:p.Val257Ile
ENST00000526468.1:c.454G>A	ENSP00000433366.1:p.Val152Ile
ENST00000526954.5:c.600G>A	ENSP00000436002.1:p.Ala200=
ENST00000527323.5:c.769G>A	ENSP00000431984.1:p.Val257Ile
ENST00000527897.1:n.417G>A
ENST00000533129.5:c.769G>A	ENSP00000431686.1:p.Val257Ile
ENST00000533820.5:c.769G>A	ENSP00000435272.1:p.Val257Ile
NM_001198868.1:c.769G>A	NP_001185797.1:p.Val257Ile
NM_001198869.1:c.769G>A	NP_001185798.1:p.Val257Ile
NM_005186.3:c.769G>A	NP_005177.2:p.Val257Ile
NR_040008.1:n.881G>A
XM_006718698.1:c.769G>A	XP_006718761.1:p.Val257Ile
XM_011545292.1:c.769G>A	XP_011543594.1:p.Val257Ile
XM_006718698.2:c.769G>A	XP_006718761.1:p.Val257Ile
NM_001198868.2:c.769G>A	NP_001185797.1:p.Val257Ile
NM_005186.4:c.769G>A MANE Select	NP_005177.2:p.Val257Ile
NR_040008.2:n.786G>A
NM_001198869.2:c.769G>A	NP_001185798.1:p.Val257Ile