Canonical Allele Identifier: CA392000861
Community Standard Title: NM_000070.3(CAPN3):c.1894A>T (p.Lys632Ter)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42408304A>T , CM000677.2:g.42408304A>T GRCh38
NC_000015.9:g.42700502A>T , CM000677.1:g.42700502A>T GRCh37
NC_000015.8:g.40487794A>T NCBI36
NG_008660.1:g.65202A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.1894A>T MANE Select NP_000061.1:p.Lys632Ter
ENST00000397163.8:c.1894A>T MANE Select ENSP00000380349.3:p.Lys632Ter
NM_000070.2:c.1894A>T NP_000061.1:p.Lys632Ter
NM_024344.1:c.1876A>T NP_077320.1:p.Lys626Ter
NM_024344.2:c.1876A>T NP_077320.1:p.Lys626Ter
NM_173087.1:c.1639-999A>T NP_775110.1:n.1639-999A>T
NM_173087.2:c.1639-999A>T NP_775110.1:n.1639-999A>T
NM_173088.1:c.358A>T NP_775111.1:p.Lys120Ter
NM_173088.2:c.358A>T NP_775111.1:p.Lys120Ter
NM_173089.1:c.-81-999A>T NP_775112.1:n.-81-999A>T
NM_173089.2:c.-81-999A>T NP_775112.1:n.-81-999A>T
NM_173090.1:c.-81-999A>T NP_775113.1:n.-81-999A>T
NM_173090.2:c.-81-999A>T NP_775113.1:n.-81-999A>T
ENST00000318023.11:c.1750A>T ENSP00000326281.8:p.Lys584Ter
ENST00000337571.8:c.-81-999A>T ENSP00000336840.4:n.-81-999A>T
ENST00000337571.9:c.-81-999A>T ENSP00000336840.4:n.-81-999A>T
ENST00000349748.7:c.1639-999A>T ENSP00000183936.4:n.1639-999A>T
ENST00000349748.8:c.1639-999A>T ENSP00000183936.4:n.1639-999A>T
ENST00000356316.7:c.-90-990A>T ENSP00000348667.4:n.-90-990A>T
ENST00000357568.7:c.1876A>T ENSP00000350181.3:p.Lys626Ter
ENST00000357568.8:c.1876A>T ENSP00000350181.3:p.Lys626Ter
ENST00000397163.7:c.1894A>T ENSP00000380349.3:p.Lys632Ter
ENST00000397200.8:c.358A>T ENSP00000380384.4:p.Lys120Ter
ENST00000397204.8:c.-81-999A>T ENSP00000380387.4:n.-81-999A>T
ENST00000397204.9:c.-81-999A>T ENSP00000380387.4:n.-81-999A>T
ENST00000466369.5:n.2385A>T
ENST00000495723.1:n.2765A>T
ENST00000549793.5:n.2107A>T
ENST00000561817.5:c.-81-999A>T ENSP00000456575.1:n.-81-999A>T
ENST00000565173.1:n.223A>T
ENST00000565173.2:n.268A>T
ENST00000565274.5:c.106A>T ENSP00000457759.1:p.Lys36Ter
ENST00000565559.5:c.-38A>T ENSP00000457878.1:n.-38A>T
ENST00000567071.5:c.353A>T
ENST00000569136.5:c.-102A>T ENSP00000455254.1:n.-102A>T
ENST00000569136.6:c.-102A>T ENSP00000455254.1:n.-102A>T
ENST00000569827.5:c.247-999A>T ENSP00000454379.1:n.247-999A>T
ENST00000638141.2:n.1654-999A>T
ENST00000673646.1:c.458A>T ENSP00000501007.1:n.458A>T
ENST00000673692.1:c.-3-1483A>T ENSP00000501138.1:n.-3-1483A>T
ENST00000673705.1:c.310-999A>T ENSP00000501021.1:n.310-999A>T
ENST00000673743.1:c.-179+164A>T ENSP00000500989.1:n.-179+164A>T
ENST00000673750.1:c.-102A>T ENSP00000501173.1:n.-102A>T
ENST00000673771.1:c.-102A>T ENSP00000501023.1:n.-102A>T
ENST00000673839.1:c.-246A>T ENSP00000501188.1:n.-246A>T
ENST00000673851.1:c.-102A>T ENSP00000501142.1:n.-102A>T
ENST00000673854.1:n.4338A>T
ENST00000673886.1:c.-102A>T ENSP00000501155.1:n.-102A>T
ENST00000673890.1:c.-102A>T ENSP00000501293.1:n.-102A>T
ENST00000673928.1:c.-82+164A>T ENSP00000501099.1:n.-82+164A>T
ENST00000673936.1:c.-102A>T ENSP00000501189.1:n.-102A>T
ENST00000673939.1:c.-81-999A>T ENSP00000501129.1:n.-81-999A>T
ENST00000673978.1:c.-268A>T ENSP00000500976.1:n.-268A>T
ENST00000673987.1:c.-102A>T ENSP00000501231.1:n.-102A>T
ENST00000674011.1:c.-102A>T ENSP00000501171.1:n.-102A>T
ENST00000674012.1:n.169A>T
ENST00000674018.1:c.-102A>T ENSP00000501271.1:n.-102A>T
ENST00000674041.1:c.-81-999A>T ENSP00000500956.1:n.-81-999A>T
ENST00000674052.1:c.118A>T ENSP00000501057.1:p.Lys40Ter
ENST00000674064.1:n.273A>T
ENST00000674093.1:c.-81-999A>T ENSP00000501303.1:n.-81-999A>T
ENST00000674119.1:c.-81-999A>T ENSP00000501217.1:n.-81-999A>T
ENST00000674135.1:c.-38A>T ENSP00000501178.1:n.-38A>T
ENST00000674139.1:c.-102A>T ENSP00000501054.1:n.-102A>T
ENST00000674140.1:n.1045A>T
ENST00000674146.1:c.-102A>T ENSP00000501175.1:n.-102A>T
ENST00000674149.1:c.-102A>T ENSP00000501112.1:n.-102A>T