Canonical Allele Identifier: CA7511175

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42390101G>A , CM000677.2:g.42390101G>A	GRCh38
NC_000015.9:g.42682299G>A , CM000677.1:g.42682299G>A	GRCh37
NC_000015.8:g.40469591G>A	NCBI36
NG_008660.1:g.46999G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.945+5G>A MANE Select	NP_000061.1:n.945+5G>A
ENST00000397163.8:c.945+5G>A MANE Select	ENSP00000380349.3:n.945+5G>A
NM_000070.2:c.945+5G>A	NP_000061.1:n.945+5G>A
NM_024344.1:c.945+5G>A	NP_077320.1:n.945+5G>A
NM_024344.2:c.945+5G>A	NP_077320.1:n.945+5G>A
NM_173087.1:c.801+1005G>A	NP_775110.1:n.801+1005G>A
NM_173087.2:c.801+1005G>A	NP_775110.1:n.801+1005G>A
ENST00000318023.11:c.801+1005G>A	ENSP00000326281.8:n.801+1005G>A
ENST00000349748.7:c.801+1005G>A	ENSP00000183936.4:n.801+1005G>A
ENST00000349748.8:c.801+1005G>A	ENSP00000183936.4:n.801+1005G>A
ENST00000357568.7:c.945+5G>A	ENSP00000350181.3:n.945+5G>A
ENST00000357568.8:c.945+5G>A	ENSP00000350181.3:n.945+5G>A
ENST00000397163.7:c.945+5G>A	ENSP00000380349.3:n.945+5G>A
ENST00000466369.5:n.1454+5G>A
ENST00000483208.5:n.1176+5G>A
ENST00000495723.1:n.1176+5G>A
ENST00000549793.5:n.1176+5G>A
ENST00000638141.2:n.816+1005G>A
ENST00000673705.1:c.70+5549G>A	ENSP00000501021.1:n.70+5549G>A