Canonical Allele Identifier: CA391999113

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42396801T>G , CM000677.2:g.42396801T>G	GRCh38
NC_000015.9:g.42688999T>G , CM000677.1:g.42688999T>G	GRCh37
NC_000015.8:g.40476291T>G	NCBI36
NG_008660.1:g.53699T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.1117T>G MANE Select	NP_000061.1:p.Trp373Gly
ENST00000397163.8:c.1117T>G MANE Select	ENSP00000380349.3:p.Trp373Gly
NM_000070.2:c.1117T>G	NP_000061.1:p.Trp373Gly
NM_024344.1:c.1117T>G	NP_077320.1:p.Trp373Gly
NM_024344.2:c.1117T>G	NP_077320.1:p.Trp373Gly
NM_173087.1:c.973T>G	NP_775110.1:p.Trp325Gly
NM_173087.2:c.973T>G	NP_775110.1:p.Trp325Gly
ENST00000318023.11:c.973T>G	ENSP00000326281.8:p.Trp325Gly
ENST00000349748.7:c.973T>G	ENSP00000183936.4:p.Trp325Gly
ENST00000349748.8:c.973T>G	ENSP00000183936.4:p.Trp325Gly
ENST00000357568.7:c.1117T>G	ENSP00000350181.3:p.Trp373Gly
ENST00000357568.8:c.1117T>G	ENSP00000350181.3:p.Trp373Gly
ENST00000397163.7:c.1117T>G	ENSP00000380349.3:p.Trp373Gly
ENST00000466369.5:n.1626T>G
ENST00000483208.5:n.1348T>G
ENST00000495723.1:n.1348T>G
ENST00000549793.5:n.1348T>G
ENST00000638141.2:n.988T>G
ENST00000673658.1:n.101T>G
ENST00000673705.1:c.72T>G	ENSP00000501021.1:p.Asp24Glu