Canonical Allele Identifier: CA391999297

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42399490A>G , CM000677.2:g.42399490A>G	GRCh38
NC_000015.9:g.42691688A>G , CM000677.1:g.42691688A>G	GRCh37
NC_000015.8:g.40478980A>G	NCBI36
NG_008660.1:g.56388A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.1194-2A>G MANE Select	NP_000061.1:n.1194-2A>G
ENST00000397163.8:c.1194-2A>G MANE Select	ENSP00000380349.3:n.1194-2A>G
NM_000070.2:c.1194-2A>G	NP_000061.1:n.1194-2A>G
NM_024344.1:c.1194-2A>G	NP_077320.1:n.1194-2A>G
NM_024344.2:c.1194-2A>G	NP_077320.1:n.1194-2A>G
NM_173087.1:c.1050-2A>G	NP_775110.1:n.1050-2A>G
NM_173087.2:c.1050-2A>G	NP_775110.1:n.1050-2A>G
ENST00000318023.11:c.1050-2A>G	ENSP00000326281.8:n.1050-2A>G
ENST00000349748.7:c.1050-2A>G	ENSP00000183936.4:n.1050-2A>G
ENST00000349748.8:c.1050-2A>G	ENSP00000183936.4:n.1050-2A>G
ENST00000357568.7:c.1194-2A>G	ENSP00000350181.3:n.1194-2A>G
ENST00000357568.8:c.1194-2A>G	ENSP00000350181.3:n.1194-2A>G
ENST00000397163.7:c.1194-2A>G	ENSP00000380349.3:n.1194-2A>G
ENST00000466369.5:n.1703-2A>G
ENST00000483208.5:n.1425-2A>G
ENST00000495723.1:n.1425-2A>G
ENST00000549793.5:n.1425-2A>G
ENST00000638141.2:n.1065-2A>G
ENST00000673658.1:n.178-2A>G
ENST00000673705.1:c.149-2A>G	ENSP00000501021.1:n.149-2A>G