Canonical Allele Identifier: CA233619

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42399652G>T , CM000677.2:g.42399652G>T	GRCh38
NC_000015.9:g.42691850G>T , CM000677.1:g.42691850G>T	GRCh37
NC_000015.8:g.40479142G>T	NCBI36
NG_008660.1:g.56550G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.1354G>T MANE Select	NP_000061.1:p.Asp452Tyr
ENST00000397163.8:c.1354G>T MANE Select	ENSP00000380349.3:p.Asp452Tyr
NM_000070.2:c.1354G>T	NP_000061.1:p.Asp452Tyr
NM_024344.1:c.1354G>T	NP_077320.1:p.Asp452Tyr
NM_024344.2:c.1354G>T	NP_077320.1:p.Asp452Tyr
NM_173087.1:c.1210G>T	NP_775110.1:p.Asp404Tyr
NM_173087.2:c.1210G>T	NP_775110.1:p.Asp404Tyr
ENST00000318023.11:c.1210G>T	ENSP00000326281.8:p.Asp404Tyr
ENST00000349748.7:c.1210G>T	ENSP00000183936.4:p.Asp404Tyr
ENST00000349748.8:c.1210G>T	ENSP00000183936.4:p.Asp404Tyr
ENST00000357568.7:c.1354G>T	ENSP00000350181.3:p.Asp452Tyr
ENST00000357568.8:c.1354G>T	ENSP00000350181.3:p.Asp452Tyr
ENST00000397163.7:c.1354G>T	ENSP00000380349.3:p.Asp452Tyr
ENST00000466369.5:n.1863G>T
ENST00000483208.5:n.1585G>T
ENST00000495723.1:n.1585G>T
ENST00000549793.5:n.1585G>T
ENST00000638141.2:n.1225G>T
ENST00000673658.1:n.338G>T
ENST00000673705.1:c.309G>T	ENSP00000501021.1:n.309G>T