Canonical Allele Identifier: CA1139663856
Community Standard Title: NM_000070.3(CAPN3):c.1782+1072G>C
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42404849G>C , CM000677.2:g.42404849G>C GRCh38
NC_000015.9:g.42697047G>C , CM000677.1:g.42697047G>C GRCh37
NC_000015.8:g.40484339G>C NCBI36
NG_008660.1:g.61747G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.1782+1072G>C MANE Select NP_000061.1:n.1782+1072G>C
ENST00000397163.8:c.1782+1072G>C MANE Select ENSP00000380349.3:n.1782+1072G>C
NM_000070.2:c.1782+1072G>C NP_000061.1:n.1782+1072G>C
NM_024344.1:c.1782+1072G>C NP_077320.1:n.1782+1072G>C
NM_024344.2:c.1782+1072G>C NP_077320.1:n.1782+1072G>C
NM_173087.1:c.1638+1072G>C NP_775110.1:n.1638+1072G>C
NM_173087.2:c.1638+1072G>C NP_775110.1:n.1638+1072G>C
NM_173088.1:c.246+1072G>C NP_775111.1:n.246+1072G>C
NM_173088.2:c.246+1072G>C NP_775111.1:n.246+1072G>C
NM_173089.1:c.-188G>C NP_775112.1:n.-188G>C
NM_173089.2:c.-188G>C NP_775112.1:n.-188G>C
NM_173090.1:c.-206G>C NP_775113.1:n.-206G>C
NM_173090.2:c.-206G>C NP_775113.1:n.-206G>C
ENST00000318023.11:c.1638+1072G>C ENSP00000326281.8:n.1638+1072G>C
ENST00000337571.8:c.-188G>C ENSP00000336840.4:n.-188G>C
ENST00000337571.9:c.-201G>C ENSP00000336840.4:n.-201G>C
ENST00000349748.7:c.1638+1072G>C ENSP00000183936.4:n.1638+1072G>C
ENST00000349748.8:c.1638+1072G>C ENSP00000183936.4:n.1638+1072G>C
ENST00000356316.7:c.-206G>C ENSP00000348667.4:n.-206G>C
ENST00000357568.7:c.1782+1072G>C ENSP00000350181.3:n.1782+1072G>C
ENST00000357568.8:c.1782+1072G>C ENSP00000350181.3:n.1782+1072G>C
ENST00000397163.7:c.1782+1072G>C ENSP00000380349.3:n.1782+1072G>C
ENST00000397200.8:c.246+1072G>C ENSP00000380384.4:n.246+1072G>C
ENST00000397204.8:c.-206G>C ENSP00000380387.4:n.-206G>C
ENST00000397204.9:c.-206G>C ENSP00000380387.4:n.-206G>C
ENST00000466369.5:n.2291+1072G>C
ENST00000495723.1:n.2671+1072G>C
ENST00000549793.5:n.2013+1072G>C
ENST00000561817.5:c.-188G>C ENSP00000456575.1:n.-188G>C
ENST00000565173.1:n.23G>C
ENST00000565173.2:n.68G>C
ENST00000567071.5:c.241+1072G>C
ENST00000569136.5:c.-320G>C ENSP00000455254.1:n.-320G>C
ENST00000569136.6:c.-320G>C ENSP00000455254.1:n.-320G>C
ENST00000569827.5:c.246+1072G>C ENSP00000454379.1:n.246+1072G>C
ENST00000638141.2:n.1653+1072G>C
ENST00000673646.1:c.247-1G>C ENSP00000501007.1:n.247-1G>C
ENST00000673692.1:c.-6G>C ENSP00000501138.1:n.-6G>C
ENST00000673705.1:c.310-4454G>C ENSP00000501021.1:n.310-4454G>C
ENST00000673743.1:c.-543G>C ENSP00000500989.1:n.-543G>C
ENST00000673771.1:c.-315G>C ENSP00000501023.1:n.-315G>C
ENST00000673839.1:c.-446G>C ENSP00000501188.1:n.-446G>C
ENST00000673851.1:c.-664G>C ENSP00000501142.1:n.-664G>C
ENST00000673854.1:n.883G>C
ENST00000673886.1:c.-1035G>C ENSP00000501155.1:n.-1035G>C
ENST00000673890.1:c.-302G>C ENSP00000501293.1:n.-302G>C
ENST00000673936.1:c.-198G>C ENSP00000501189.1:n.-198G>C
ENST00000673939.1:c.-188G>C ENSP00000501129.1:n.-188G>C
ENST00000673978.1:c.-468G>C ENSP00000500976.1:n.-468G>C
ENST00000673987.1:c.-320G>C ENSP00000501231.1:n.-320G>C
ENST00000674018.1:c.-659G>C ENSP00000501271.1:n.-659G>C
ENST00000674052.1:c.-1071G>C ENSP00000501057.1:n.-1071G>C
ENST00000674064.1:n.73G>C
ENST00000674093.1:c.-188G>C ENSP00000501303.1:n.-188G>C
ENST00000674119.1:c.-84G>C ENSP00000501217.1:n.-84G>C
ENST00000674139.1:c.-3557G>C ENSP00000501054.1:n.-3557G>C
ENST00000674146.1:c.-648G>C ENSP00000501175.1:n.-648G>C
ENST00000674149.1:c.-630G>C ENSP00000501112.1:n.-630G>C