Canonical Allele Identifier: CA392001202
Community Standard Title: NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42409336G>T , CM000677.2:g.42409336G>T GRCh38
NC_000015.9:g.42701534G>T , CM000677.1:g.42701534G>T GRCh37
NC_000015.8:g.40488826G>T NCBI36
NG_008660.1:g.66234G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.1948G>T MANE Select NP_000061.1:p.Glu650Ter
ENST00000397163.8:c.1948G>T MANE Select ENSP00000380349.3:p.Glu650Ter
NM_000070.2:c.1948G>T NP_000061.1:p.Glu650Ter
NM_024344.1:c.1930G>T NP_077320.1:p.Glu644Ter
NM_024344.2:c.1930G>T NP_077320.1:p.Glu644Ter
NM_173087.1:c.1672G>T NP_775110.1:p.Glu558Ter
NM_173087.2:c.1672G>T NP_775110.1:p.Glu558Ter
NM_173088.1:c.412G>T NP_775111.1:p.Glu138Ter
NM_173088.2:c.412G>T NP_775111.1:p.Glu138Ter
NM_173089.1:c.-48G>T NP_775112.1:n.-48G>T
NM_173089.2:c.-48G>T NP_775112.1:n.-48G>T
NM_173090.1:c.-48G>T NP_775113.1:n.-48G>T
NM_173090.2:c.-48G>T NP_775113.1:n.-48G>T
ENST00000318023.11:c.1804G>T ENSP00000326281.8:p.Glu602Ter
ENST00000337571.8:c.-48G>T ENSP00000336840.4:n.-48G>T
ENST00000337571.9:c.-48G>T ENSP00000336840.4:n.-48G>T
ENST00000349748.7:c.1672G>T ENSP00000183936.4:p.Glu558Ter
ENST00000349748.8:c.1672G>T ENSP00000183936.4:p.Glu558Ter
ENST00000356316.7:c.-48G>T ENSP00000348667.4:n.-48G>T
ENST00000357568.7:c.1930G>T ENSP00000350181.3:p.Glu644Ter
ENST00000357568.8:c.1930G>T ENSP00000350181.3:p.Glu644Ter
ENST00000397163.7:c.1948G>T ENSP00000380349.3:p.Glu650Ter
ENST00000397200.8:c.412G>T ENSP00000380384.4:p.Glu138Ter
ENST00000397204.8:c.-48G>T ENSP00000380387.4:n.-48G>T
ENST00000397204.9:c.-48G>T ENSP00000380387.4:n.-48G>T
ENST00000466222.6:n.871G>T
ENST00000466222.7:n.213G>T
ENST00000466369.5:n.2439G>T
ENST00000495723.1:n.2819G>T
ENST00000549793.5:n.2161G>T
ENST00000561817.5:c.-48G>T ENSP00000456575.1:n.-48G>T
ENST00000564503.5:c.45G>T
ENST00000565274.5:c.160G>T ENSP00000457759.1:p.Glu54Ter
ENST00000565559.5:c.130G>T ENSP00000457878.1:p.Glu44Ter
ENST00000567071.5:c.428G>T
ENST00000569136.5:c.-48G>T ENSP00000455254.1:n.-48G>T
ENST00000569136.6:c.-48G>T ENSP00000455254.1:n.-48G>T
ENST00000569827.5:c.280G>T ENSP00000454379.1:p.Glu94Ter
ENST00000638141.2:n.1687G>T
ENST00000673646.1:c.512G>T ENSP00000501007.1:n.512G>T
ENST00000673687.1:n.25G>T
ENST00000673692.1:c.-3-451G>T ENSP00000501138.1:n.-3-451G>T
ENST00000673705.1:c.343G>T ENSP00000501021.1:n.343G>T
ENST00000673743.1:c.-145G>T ENSP00000500989.1:n.-145G>T
ENST00000673750.1:c.-48G>T ENSP00000501173.1:n.-48G>T
ENST00000673771.1:c.-48G>T ENSP00000501023.1:n.-48G>T
ENST00000673774.1:n.243G>T
ENST00000673839.1:c.-192G>T ENSP00000501188.1:n.-192G>T
ENST00000673851.1:c.-48G>T ENSP00000501142.1:n.-48G>T
ENST00000673854.1:n.5370G>T
ENST00000673886.1:c.-48G>T ENSP00000501155.1:n.-48G>T
ENST00000673890.1:c.-48G>T ENSP00000501293.1:n.-48G>T
ENST00000673928.1:c.-48G>T ENSP00000501099.1:n.-48G>T
ENST00000673936.1:c.-48G>T ENSP00000501189.1:n.-48G>T
ENST00000673939.1:c.-48G>T ENSP00000501129.1:n.-48G>T
ENST00000673950.1:n.222G>T
ENST00000673978.1:c.91G>T ENSP00000500976.1:p.Glu31Ter
ENST00000673987.1:c.-48G>T ENSP00000501231.1:n.-48G>T
ENST00000674011.1:c.-48G>T ENSP00000501171.1:n.-48G>T
ENST00000674018.1:c.-48G>T ENSP00000501271.1:n.-48G>T
ENST00000674027.1:n.8G>T
ENST00000674041.1:c.-48G>T ENSP00000500956.1:n.-48G>T
ENST00000674052.1:c.172G>T ENSP00000501057.1:p.Glu58Ter
ENST00000674093.1:c.-48G>T ENSP00000501303.1:n.-48G>T
ENST00000674119.1:c.-48G>T ENSP00000501217.1:n.-48G>T
ENST00000674135.1:c.130G>T ENSP00000501178.1:p.Glu44Ter
ENST00000674139.1:c.-48G>T ENSP00000501054.1:n.-48G>T
ENST00000674146.1:c.-48G>T ENSP00000501175.1:n.-48G>T
ENST00000674149.1:c.-48G>T ENSP00000501112.1:n.-48G>T