Canonical Allele Identifier: CA2172720965
Community Standard Title: NM_000070.3(CAPN3):c.2306G= (p.Arg769=)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410926G= , CM000677.2:g.42410926G= GRCh38
NC_000015.9:g.42703124G= , CM000677.1:g.42703124G= GRCh37
NC_000015.8:g.40490416G= NCBI36
NG_008660.1:g.67824G=

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.2306G= MANE Select NP_000061.1:p.Arg769=
ENST00000397163.8:c.2306G= MANE Select ENSP00000380349.3:p.Arg769=
NM_000070.2:c.2306G= NP_000061.1:p.Arg769=
NM_024344.1:c.2288G= NP_077320.1:p.Arg763=
NM_024344.2:c.2288G= NP_077320.1:p.Arg763=
NM_173087.1:c.2030G= NP_775110.1:p.Arg677=
NM_173087.2:c.2030G= NP_775110.1:p.Arg677=
NM_173088.1:c.770G= NP_775111.1:p.Arg257=
NM_173088.2:c.770G= NP_775111.1:p.Arg257=
NM_173089.1:c.311G= NP_775112.1:p.Arg104=
NM_173089.2:c.311G= NP_775112.1:p.Arg104=
NM_173090.1:c.311G= NP_775113.1:p.Arg104=
NM_173090.2:c.311G= NP_775113.1:p.Arg104=
ENST00000318023.11:c.2162G= ENSP00000326281.8:p.Arg721=
ENST00000337571.8:c.311G= ENSP00000336840.4:p.Arg104=
ENST00000337571.9:c.311G= ENSP00000336840.4:p.Arg104=
ENST00000349748.7:c.2030G= ENSP00000183936.4:p.Arg677=
ENST00000349748.8:c.2030G= ENSP00000183936.4:p.Arg677=
ENST00000356316.7:c.311G= ENSP00000348667.4:p.Arg104=
ENST00000357568.7:c.2288G= ENSP00000350181.3:p.Arg763=
ENST00000357568.8:c.2288G= ENSP00000350181.3:p.Arg763=
ENST00000397163.7:c.2306G= ENSP00000380349.3:p.Arg769=
ENST00000397200.8:c.770G= ENSP00000380384.4:p.Arg257=
ENST00000397204.8:c.311G= ENSP00000380387.4:p.Arg104=
ENST00000397204.9:c.311G= ENSP00000380387.4:p.Arg104=
ENST00000466222.6:n.1229G=
ENST00000466222.7:n.751G=
ENST00000466369.5:n.2797G=
ENST00000495723.1:n.3177G=
ENST00000549793.5:n.2519G=
ENST00000561817.5:c.311G= ENSP00000456575.1:p.Arg104=
ENST00000562199.1:n.310G=
ENST00000562199.2:c.310G= ENSP00000501034.1:p.Gly104=
ENST00000564503.5:c.349G=
ENST00000565274.5:c.484G= ENSP00000457759.1:n.484G=
ENST00000567817.5:c.122G= ENSP00000456514.1:p.Arg41=
ENST00000567817.6:c.95G= ENSP00000456514.2:p.Arg32=
ENST00000568153.1:c.43G=
ENST00000568153.2:c.172G=
ENST00000569136.5:c.311G= ENSP00000455254.1:p.Arg104=
ENST00000569136.6:c.311G= ENSP00000455254.1:p.Arg104=
ENST00000569827.5:c.638G= ENSP00000454379.1:p.Arg213=
ENST00000638141.2:n.2045G=
ENST00000673646.1:c.870G= ENSP00000501007.1:n.870G=
ENST00000673684.1:n.288G=
ENST00000673692.1:c.311G= ENSP00000501138.1:p.Arg104=
ENST00000673705.1:c.849G= ENSP00000501021.1:n.849G=
ENST00000673743.1:c.209G= ENSP00000500989.1:p.Arg70=
ENST00000673750.1:c.311G= ENSP00000501173.1:p.Arg104=
ENST00000673771.1:c.311G= ENSP00000501023.1:p.Arg104=
ENST00000673774.1:n.1439G=
ENST00000673839.1:c.311G= ENSP00000501188.1:p.Arg104=
ENST00000673851.1:c.311G= ENSP00000501142.1:p.Arg104=
ENST00000673854.1:n.5728G=
ENST00000673886.1:c.311G= ENSP00000501155.1:p.Arg104=
ENST00000673890.1:c.311G= ENSP00000501293.1:p.Arg104=
ENST00000673928.1:c.311G= ENSP00000501099.1:p.Arg104=
ENST00000673936.1:c.311G= ENSP00000501189.1:p.Arg104=
ENST00000673939.1:c.*100G= ENSP00000501129.1:n.*100G=
ENST00000673950.1:n.580G=
ENST00000673978.1:c.449G= ENSP00000500976.1:p.Arg150=
ENST00000673987.1:c.*100G= ENSP00000501231.1:n.*100G=
ENST00000674011.1:c.*100G= ENSP00000501171.1:n.*100G=
ENST00000674018.1:c.311G= ENSP00000501271.1:p.Arg104=
ENST00000674027.1:n.457G=
ENST00000674041.1:c.311G= ENSP00000500956.1:p.Arg104=
ENST00000674052.1:c.530G= ENSP00000501057.1:p.Arg177=
ENST00000674093.1:c.311G= ENSP00000501303.1:p.Arg104=
ENST00000674119.1:c.311G= ENSP00000501217.1:p.Arg104=
ENST00000674135.1:c.488G= ENSP00000501178.1:p.Arg163=
ENST00000674139.1:c.311G= ENSP00000501054.1:p.Arg104=
ENST00000674146.1:c.311G= ENSP00000501175.1:p.Arg104=
ENST00000674149.1:c.311G= ENSP00000501112.1:p.Arg104=