Canonical Allele Identifier: CA7511310

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42399588A>G , CM000677.2:g.42399588A>G	GRCh38
NC_000015.9:g.42691786A>G , CM000677.1:g.42691786A>G	GRCh37
NC_000015.8:g.40479078A>G	NCBI36
NG_008660.1:g.56486A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.1290A>G MANE Select	NP_000061.1:p.Thr430=
ENST00000397163.8:c.1290A>G MANE Select	ENSP00000380349.3:p.Thr430=
NM_000070.2:c.1290A>G	NP_000061.1:p.Thr430=
NM_024344.1:c.1290A>G	NP_077320.1:p.Thr430=
NM_024344.2:c.1290A>G	NP_077320.1:p.Thr430=
NM_173087.1:c.1146A>G	NP_775110.1:p.Thr382=
NM_173087.2:c.1146A>G	NP_775110.1:p.Thr382=
ENST00000318023.11:c.1146A>G	ENSP00000326281.8:p.Thr382=
ENST00000349748.7:c.1146A>G	ENSP00000183936.4:p.Thr382=
ENST00000349748.8:c.1146A>G	ENSP00000183936.4:p.Thr382=
ENST00000357568.7:c.1290A>G	ENSP00000350181.3:p.Thr430=
ENST00000357568.8:c.1290A>G	ENSP00000350181.3:p.Thr430=
ENST00000397163.7:c.1290A>G	ENSP00000380349.3:p.Thr430=
ENST00000466369.5:n.1799A>G
ENST00000483208.5:n.1521A>G
ENST00000495723.1:n.1521A>G
ENST00000549793.5:n.1521A>G
ENST00000638141.2:n.1161A>G
ENST00000673658.1:n.274A>G
ENST00000673705.1:c.245A>G	ENSP00000501021.1:p.Gln82Arg