Canonical Allele Identifier: CA392000870
Community Standard Title: NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42408307C>T , CM000677.2:g.42408307C>T GRCh38
NC_000015.9:g.42700505C>T , CM000677.1:g.42700505C>T GRCh37
NC_000015.8:g.40487797C>T NCBI36
NG_008660.1:g.65205C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.1897C>T MANE Select NP_000061.1:p.Gln633Ter
ENST00000397163.8:c.1897C>T MANE Select ENSP00000380349.3:p.Gln633Ter
NM_000070.2:c.1897C>T NP_000061.1:p.Gln633Ter
NM_024344.1:c.1879C>T NP_077320.1:p.Gln627Ter
NM_024344.2:c.1879C>T NP_077320.1:p.Gln627Ter
NM_173087.1:c.1639-996C>T NP_775110.1:n.1639-996C>T
NM_173087.2:c.1639-996C>T NP_775110.1:n.1639-996C>T
NM_173088.1:c.361C>T NP_775111.1:p.Gln121Ter
NM_173088.2:c.361C>T NP_775111.1:p.Gln121Ter
NM_173089.1:c.-81-996C>T NP_775112.1:n.-81-996C>T
NM_173089.2:c.-81-996C>T NP_775112.1:n.-81-996C>T
NM_173090.1:c.-81-996C>T NP_775113.1:n.-81-996C>T
NM_173090.2:c.-81-996C>T NP_775113.1:n.-81-996C>T
ENST00000318023.11:c.1753C>T ENSP00000326281.8:p.Gln585Ter
ENST00000337571.8:c.-81-996C>T ENSP00000336840.4:n.-81-996C>T
ENST00000337571.9:c.-81-996C>T ENSP00000336840.4:n.-81-996C>T
ENST00000349748.7:c.1639-996C>T ENSP00000183936.4:n.1639-996C>T
ENST00000349748.8:c.1639-996C>T ENSP00000183936.4:n.1639-996C>T
ENST00000356316.7:c.-90-987C>T ENSP00000348667.4:n.-90-987C>T
ENST00000357568.7:c.1879C>T ENSP00000350181.3:p.Gln627Ter
ENST00000357568.8:c.1879C>T ENSP00000350181.3:p.Gln627Ter
ENST00000397163.7:c.1897C>T ENSP00000380349.3:p.Gln633Ter
ENST00000397200.8:c.361C>T ENSP00000380384.4:p.Gln121Ter
ENST00000397204.8:c.-81-996C>T ENSP00000380387.4:n.-81-996C>T
ENST00000397204.9:c.-81-996C>T ENSP00000380387.4:n.-81-996C>T
ENST00000466369.5:n.2388C>T
ENST00000495723.1:n.2768C>T
ENST00000549793.5:n.2110C>T
ENST00000561817.5:c.-81-996C>T ENSP00000456575.1:n.-81-996C>T
ENST00000565173.1:n.226C>T
ENST00000565173.2:n.271C>T
ENST00000565274.5:c.109C>T ENSP00000457759.1:p.Gln37Ter
ENST00000565559.5:c.-35C>T ENSP00000457878.1:n.-35C>T
ENST00000567071.5:c.356C>T
ENST00000569136.5:c.-99C>T ENSP00000455254.1:n.-99C>T
ENST00000569136.6:c.-99C>T ENSP00000455254.1:n.-99C>T
ENST00000569827.5:c.247-996C>T ENSP00000454379.1:n.247-996C>T
ENST00000638141.2:n.1654-996C>T
ENST00000673646.1:c.461C>T ENSP00000501007.1:n.461C>T
ENST00000673692.1:c.-3-1480C>T ENSP00000501138.1:n.-3-1480C>T
ENST00000673705.1:c.310-996C>T ENSP00000501021.1:n.310-996C>T
ENST00000673743.1:c.-179+167C>T ENSP00000500989.1:n.-179+167C>T
ENST00000673750.1:c.-99C>T ENSP00000501173.1:n.-99C>T
ENST00000673771.1:c.-99C>T ENSP00000501023.1:n.-99C>T
ENST00000673839.1:c.-243C>T ENSP00000501188.1:n.-243C>T
ENST00000673851.1:c.-99C>T ENSP00000501142.1:n.-99C>T
ENST00000673854.1:n.4341C>T
ENST00000673886.1:c.-99C>T ENSP00000501155.1:n.-99C>T
ENST00000673890.1:c.-99C>T ENSP00000501293.1:n.-99C>T
ENST00000673928.1:c.-82+167C>T ENSP00000501099.1:n.-82+167C>T
ENST00000673936.1:c.-99C>T ENSP00000501189.1:n.-99C>T
ENST00000673939.1:c.-81-996C>T ENSP00000501129.1:n.-81-996C>T
ENST00000673978.1:c.-265C>T ENSP00000500976.1:n.-265C>T
ENST00000673987.1:c.-99C>T ENSP00000501231.1:n.-99C>T
ENST00000674011.1:c.-99C>T ENSP00000501171.1:n.-99C>T
ENST00000674012.1:n.172C>T
ENST00000674018.1:c.-99C>T ENSP00000501271.1:n.-99C>T
ENST00000674041.1:c.-81-996C>T ENSP00000500956.1:n.-81-996C>T
ENST00000674052.1:c.121C>T ENSP00000501057.1:p.Gln41Ter
ENST00000674064.1:n.276C>T
ENST00000674093.1:c.-81-996C>T ENSP00000501303.1:n.-81-996C>T
ENST00000674119.1:c.-81-996C>T ENSP00000501217.1:n.-81-996C>T
ENST00000674135.1:c.-35C>T ENSP00000501178.1:n.-35C>T
ENST00000674139.1:c.-99C>T ENSP00000501054.1:n.-99C>T
ENST00000674140.1:n.1048C>T
ENST00000674146.1:c.-99C>T ENSP00000501175.1:n.-99C>T
ENST00000674149.1:c.-99C>T ENSP00000501112.1:n.-99C>T