Canonical Allele Identifier: CA6093245

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65188467A>G , CM000673.2:g.65188467A>G	GRCh38
NC_000011.9:g.64955938A>G , CM000673.1:g.64955938A>G	GRCh37
NC_000011.8:g.64712514A>G	NCBI36
NG_052817.1:g.12253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.983A>G MANE Select	ENSP00000279247.7:p.Lys328Arg
ENST00000279247.10:c.983A>G	ENSP00000279247.6:p.Lys328Arg
ENST00000524773.5:c.983A>G	ENSP00000434176.1:p.Lys328Arg
ENST00000527323.5:c.983A>G	ENSP00000431984.1:p.Lys328Arg
ENST00000527887.1:n.223A>G
ENST00000533079.5:n.154A>G
ENST00000533129.5:c.983A>G	ENSP00000431686.1:p.Lys328Arg
ENST00000533820.5:c.983A>G	ENSP00000435272.1:p.Lys328Arg
NM_001198868.1:c.983A>G	NP_001185797.1:p.Lys328Arg
NM_001198869.1:c.983A>G	NP_001185798.1:p.Lys328Arg
NM_005186.3:c.983A>G	NP_005177.2:p.Lys328Arg
NR_040008.1:n.1095A>G
XM_006718698.1:c.983A>G	XP_006718761.1:p.Lys328Arg
XM_011545292.1:c.983A>G	XP_011543594.1:p.Lys328Arg
XM_006718698.2:c.983A>G	XP_006718761.1:p.Lys328Arg
NM_001198868.2:c.983A>G	NP_001185797.1:p.Lys328Arg
NM_005186.4:c.983A>G MANE Select	NP_005177.2:p.Lys328Arg
NR_040008.2:n.1000A>G
NM_001198869.2:c.983A>G	NP_001185798.1:p.Lys328Arg