Canonical Allele Identifier: CA392002426
Community Standard Title: NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu)
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42411772G>T , CM000677.2:g.42411772G>T GRCh38
NC_000015.9:g.42703970G>T , CM000677.1:g.42703970G>T GRCh37
NC_000015.8:g.40491262G>T NCBI36
NG_008660.1:g.68670G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.2465G>T MANE Select NP_000061.1:p.Ter822Leu
ENST00000397163.8:c.2465G>T MANE Select ENSP00000380349.3:p.Ter822Leu
NM_000070.2:c.2465G>T NP_000061.1:p.Ter822Leu
NM_024344.1:c.2447G>T NP_077320.1:p.Ter816Leu
NM_024344.2:c.2447G>T NP_077320.1:p.Ter816Leu
NM_173087.1:c.2189G>T NP_775110.1:p.Ter730Leu
NM_173087.2:c.2189G>T NP_775110.1:p.Ter730Leu
NM_173088.1:c.929G>T NP_775111.1:p.Ter310Leu
NM_173088.2:c.929G>T NP_775111.1:p.Ter310Leu
NM_173089.1:c.470G>T NP_775112.1:p.Ter157Leu
NM_173089.2:c.470G>T NP_775112.1:p.Ter157Leu
NM_173090.1:c.470G>T NP_775113.1:p.Ter157Leu
NM_173090.2:c.470G>T NP_775113.1:p.Ter157Leu
ENST00000318023.11:c.2321G>T ENSP00000326281.8:p.Ter774Leu
ENST00000337571.8:c.470G>T ENSP00000336840.4:p.Ter157Leu
ENST00000337571.9:c.470G>T ENSP00000336840.4:p.Ter157Leu
ENST00000349748.7:c.2189G>T ENSP00000183936.4:p.Ter730Leu
ENST00000349748.8:c.2189G>T ENSP00000183936.4:p.Ter730Leu
ENST00000356316.7:c.470G>T ENSP00000348667.4:p.Ter157Leu
ENST00000357568.7:c.2447G>T ENSP00000350181.3:p.Ter816Leu
ENST00000357568.8:c.2447G>T ENSP00000350181.3:p.Ter816Leu
ENST00000397163.7:c.2465G>T ENSP00000380349.3:p.Ter822Leu
ENST00000397200.8:c.929G>T ENSP00000380384.4:p.Ter310Leu
ENST00000397204.8:c.470G>T ENSP00000380387.4:p.Ter157Leu
ENST00000397204.9:c.470G>T ENSP00000380387.4:p.Ter157Leu
ENST00000466222.6:n.1388G>T
ENST00000466222.7:n.836G>T
ENST00000466369.5:n.2956G>T
ENST00000495723.1:n.3336G>T
ENST00000549793.5:n.2678G>T
ENST00000561817.5:c.445-314G>T ENSP00000456575.1:n.445-314G>T
ENST00000562199.2:c.469G>T ENSP00000501034.1:n.469G>T
ENST00000564503.5:c.508G>T
ENST00000565274.5:c.643G>T ENSP00000457759.1:n.643G>T
ENST00000567817.5:c.281G>T ENSP00000456514.1:p.Ter94Leu
ENST00000567817.6:c.254G>T ENSP00000456514.2:p.Ter85Leu
ENST00000568153.1:c.202G>T
ENST00000568153.2:c.331G>T
ENST00000569136.5:c.470G>T ENSP00000455254.1:p.Ter157Leu
ENST00000569136.6:c.470G>T ENSP00000455254.1:p.Ter157Leu
ENST00000638141.2:n.2204G>T
ENST00000673692.1:c.470G>T ENSP00000501138.1:p.Ter157Leu
ENST00000673705.1:c.1695G>T ENSP00000501021.1:n.1695G>T
ENST00000673743.1:c.368G>T ENSP00000500989.1:p.Ter123Leu
ENST00000673750.1:c.445-314G>T ENSP00000501173.1:n.445-314G>T
ENST00000673771.1:c.470G>T ENSP00000501023.1:p.Ter157Leu
ENST00000673851.1:c.470G>T ENSP00000501142.1:p.Ter157Leu
ENST00000673854.1:n.5887G>T
ENST00000673886.1:c.470G>T ENSP00000501155.1:p.Ter157Leu
ENST00000673890.1:c.470G>T ENSP00000501293.1:p.Ter157Leu
ENST00000673928.1:c.470G>T ENSP00000501099.1:p.Ter157Leu
ENST00000673936.1:c.470G>T ENSP00000501189.1:p.Ter157Leu
ENST00000673939.1:c.*185G>T ENSP00000501129.1:n.*185G>T
ENST00000673950.1:n.714-314G>T
ENST00000673978.1:c.608G>T ENSP00000500976.1:p.Ter203Leu
ENST00000673987.1:c.*185G>T ENSP00000501231.1:n.*185G>T
ENST00000674011.1:c.*259G>T ENSP00000501171.1:n.*259G>T
ENST00000674018.1:c.470G>T ENSP00000501271.1:p.Ter157Leu
ENST00000674027.1:n.591-314G>T
ENST00000674052.1:c.689G>T ENSP00000501057.1:p.Ter230Leu
ENST00000674093.1:c.470G>T ENSP00000501303.1:p.Ter157Leu
ENST00000674119.1:c.470G>T ENSP00000501217.1:p.Ter157Leu
ENST00000674139.1:c.470G>T ENSP00000501054.1:p.Ter157Leu
ENST00000674146.1:c.470G>T ENSP00000501175.1:p.Ter157Leu
ENST00000674149.1:c.470G>T ENSP00000501112.1:p.Ter157Leu