Canonical Allele Identifier: CA6092976

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65182922G>A , CM000673.2:g.65182922G>A	GRCh38
NC_000011.9:g.64950393G>A , CM000673.1:g.64950393G>A	GRCh37
NC_000011.8:g.64706969G>A	NCBI36
NG_052817.1:g.6708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.221G>A MANE Select	ENSP00000279247.7:p.Gly74Asp
ENST00000279247.10:c.221G>A	ENSP00000279247.6:p.Gly74Asp
ENST00000524773.5:c.221G>A	ENSP00000434176.1:p.Gly74Asp
ENST00000526954.5:c.221G>A	ENSP00000436002.1:p.Gly74Asp
ENST00000526966.5:c.221G>A	ENSP00000431528.1:p.Gly74Asp
ENST00000527189.5:n.305G>A
ENST00000527323.5:c.221G>A	ENSP00000431984.1:p.Gly74Asp
ENST00000527469.1:n.302G>A
ENST00000527699.5:c.221G>A	ENSP00000431172.1:p.Gly74Asp
ENST00000527739.5:c.221G>A	ENSP00000433823.1:p.Gly74Asp
ENST00000528396.5:c.221G>A	ENSP00000435847.1:p.Gly74Asp
ENST00000528739.5:n.116G>A
ENST00000529133.5:c.221G>A	ENSP00000432512.1:p.Gly74Asp
ENST00000530442.5:n.266G>A
ENST00000531068.5:c.221G>A	ENSP00000435092.1:p.Gly74Asp
ENST00000533129.5:c.221G>A	ENSP00000431686.1:p.Gly74Asp
ENST00000533820.5:c.221G>A	ENSP00000435272.1:p.Gly74Asp
ENST00000533909.5:c.221G>A	ENSP00000435198.1:p.Gly74Asp
ENST00000534373.5:c.221G>A	ENSP00000431793.1:p.Gly74Asp
NM_001198868.1:c.221G>A	NP_001185797.1:p.Gly74Asp
NM_001198869.1:c.221G>A	NP_001185798.1:p.Gly74Asp
NM_005186.3:c.221G>A	NP_005177.2:p.Gly74Asp
NR_040008.1:n.403G>A
XM_006718698.1:c.221G>A	XP_006718761.1:p.Gly74Asp
XM_011545292.1:c.221G>A	XP_011543594.1:p.Gly74Asp
XM_006718698.2:c.221G>A	XP_006718761.1:p.Gly74Asp
NM_001198868.2:c.221G>A	NP_001185797.1:p.Gly74Asp
NM_005186.4:c.221G>A MANE Select	NP_005177.2:p.Gly74Asp
NR_040008.2:n.308G>A
NM_001198869.2:c.221G>A	NP_001185798.1:p.Gly74Asp