Canonical Allele Identifier: CA392000775
Community Standard Title: NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42408265C>T , CM000677.2:g.42408265C>T GRCh38
NC_000015.9:g.42700463C>T , CM000677.1:g.42700463C>T GRCh37
NC_000015.8:g.40487755C>T NCBI36
NG_008660.1:g.65163C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.1855C>T MANE Select NP_000061.1:p.Gln619Ter
ENST00000397163.8:c.1855C>T MANE Select ENSP00000380349.3:p.Gln619Ter
NM_000070.2:c.1855C>T NP_000061.1:p.Gln619Ter
NM_024344.1:c.1837C>T NP_077320.1:p.Gln613Ter
NM_024344.2:c.1837C>T NP_077320.1:p.Gln613Ter
NM_173087.1:c.1639-1038C>T NP_775110.1:n.1639-1038C>T
NM_173087.2:c.1639-1038C>T NP_775110.1:n.1639-1038C>T
NM_173088.1:c.319C>T NP_775111.1:p.Gln107Ter
NM_173088.2:c.319C>T NP_775111.1:p.Gln107Ter
NM_173089.1:c.-81-1038C>T NP_775112.1:n.-81-1038C>T
NM_173089.2:c.-81-1038C>T NP_775112.1:n.-81-1038C>T
NM_173090.1:c.-81-1038C>T NP_775113.1:n.-81-1038C>T
NM_173090.2:c.-81-1038C>T NP_775113.1:n.-81-1038C>T
ENST00000318023.11:c.1711C>T ENSP00000326281.8:p.Gln571Ter
ENST00000337571.8:c.-81-1038C>T ENSP00000336840.4:n.-81-1038C>T
ENST00000337571.9:c.-81-1038C>T ENSP00000336840.4:n.-81-1038C>T
ENST00000349748.7:c.1639-1038C>T ENSP00000183936.4:n.1639-1038C>T
ENST00000349748.8:c.1639-1038C>T ENSP00000183936.4:n.1639-1038C>T
ENST00000356316.7:c.-90-1029C>T ENSP00000348667.4:n.-90-1029C>T
ENST00000357568.7:c.1837C>T ENSP00000350181.3:p.Gln613Ter
ENST00000357568.8:c.1837C>T ENSP00000350181.3:p.Gln613Ter
ENST00000397163.7:c.1855C>T ENSP00000380349.3:p.Gln619Ter
ENST00000397200.8:c.319C>T ENSP00000380384.4:p.Gln107Ter
ENST00000397204.8:c.-81-1038C>T ENSP00000380387.4:n.-81-1038C>T
ENST00000397204.9:c.-81-1038C>T ENSP00000380387.4:n.-81-1038C>T
ENST00000466369.5:n.2346C>T
ENST00000495723.1:n.2726C>T
ENST00000549793.5:n.2068C>T
ENST00000561817.5:c.-81-1038C>T ENSP00000456575.1:n.-81-1038C>T
ENST00000565173.1:n.184C>T
ENST00000565173.2:n.229C>T
ENST00000565274.5:c.67C>T ENSP00000457759.1:p.Gln23Ter
ENST00000565559.5:c.-77C>T ENSP00000457878.1:n.-77C>T
ENST00000567071.5:c.314C>T
ENST00000569136.5:c.-141C>T ENSP00000455254.1:n.-141C>T
ENST00000569136.6:c.-141C>T ENSP00000455254.1:n.-141C>T
ENST00000569827.5:c.247-1038C>T ENSP00000454379.1:n.247-1038C>T
ENST00000638141.2:n.1654-1038C>T
ENST00000673646.1:c.419C>T ENSP00000501007.1:n.419C>T
ENST00000673692.1:c.-3-1522C>T ENSP00000501138.1:n.-3-1522C>T
ENST00000673705.1:c.310-1038C>T ENSP00000501021.1:n.310-1038C>T
ENST00000673743.1:c.-179+125C>T ENSP00000500989.1:n.-179+125C>T
ENST00000673750.1:c.-141C>T ENSP00000501173.1:n.-141C>T
ENST00000673771.1:c.-141C>T ENSP00000501023.1:n.-141C>T
ENST00000673839.1:c.-285C>T ENSP00000501188.1:n.-285C>T
ENST00000673851.1:c.-141C>T ENSP00000501142.1:n.-141C>T
ENST00000673854.1:n.4299C>T
ENST00000673886.1:c.-141C>T ENSP00000501155.1:n.-141C>T
ENST00000673890.1:c.-141C>T ENSP00000501293.1:n.-141C>T
ENST00000673928.1:c.-82+125C>T ENSP00000501099.1:n.-82+125C>T
ENST00000673936.1:c.-141C>T ENSP00000501189.1:n.-141C>T
ENST00000673939.1:c.-81-1038C>T ENSP00000501129.1:n.-81-1038C>T
ENST00000673978.1:c.-307C>T ENSP00000500976.1:n.-307C>T
ENST00000673987.1:c.-141C>T ENSP00000501231.1:n.-141C>T
ENST00000674011.1:c.-141C>T ENSP00000501171.1:n.-141C>T
ENST00000674012.1:n.130C>T
ENST00000674018.1:c.-141C>T ENSP00000501271.1:n.-141C>T
ENST00000674041.1:c.-81-1038C>T ENSP00000500956.1:n.-81-1038C>T
ENST00000674052.1:c.79C>T ENSP00000501057.1:p.Gln27Ter
ENST00000674064.1:n.234C>T
ENST00000674093.1:c.-81-1038C>T ENSP00000501303.1:n.-81-1038C>T
ENST00000674119.1:c.-81-1038C>T ENSP00000501217.1:n.-81-1038C>T
ENST00000674135.1:c.-77C>T ENSP00000501178.1:n.-77C>T
ENST00000674139.1:c.-141C>T ENSP00000501054.1:n.-141C>T
ENST00000674140.1:n.1006C>T
ENST00000674146.1:c.-141C>T ENSP00000501175.1:n.-141C>T
ENST00000674149.1:c.-141C>T ENSP00000501112.1:n.-141C>T