Canonical Allele Identifier: CA489886021
Gene: CAPN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.42703543G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42411345G>A , CM000677.2:g.42411345G>A GRCh38
NC_000015.9:g.42703543G>A , CM000677.1:g.42703543G>A GRCh37
NC_000015.8:g.40490835G>A NCBI36
NG_008660.1:g.68243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337571.9:c.444G>A ENSP00000336840.4:p.Glu148=
ENST00000349748.8:c.2163G>A ENSP00000183936.4:p.Glu721=
ENST00000357568.8:c.2421G>A ENSP00000350181.3:p.Glu807=
ENST00000397163.8:c.2439G>A MANE Select ENSP00000380349.3:p.Glu813=
ENST00000397204.9:c.444G>A ENSP00000380387.4:p.Glu148=
ENST00000466222.7:n.810G>A
ENST00000466369.5:n.2930G>A
ENST00000495723.1:n.3310G>A
ENST00000549793.5:n.2652G>A
ENST00000562199.2:c.443G>A ENSP00000501034.1:n.443G>A
ENST00000567817.6:c.228G>A ENSP00000456514.2:p.Glu76=
ENST00000568153.2:c.305G>A
ENST00000569136.6:c.444G>A ENSP00000455254.1:p.Glu148=
ENST00000638141.2:n.2178G>A
ENST00000673646.1:c.1003G>A ENSP00000501007.1:n.1003G>A
ENST00000673684.1:n.421G>A
ENST00000673692.1:c.444G>A ENSP00000501138.1:p.Glu148=
ENST00000673705.1:c.1268G>A ENSP00000501021.1:n.1268G>A
ENST00000673743.1:c.342G>A ENSP00000500989.1:p.Glu114=
ENST00000673750.1:c.444G>A ENSP00000501173.1:p.Glu148=
ENST00000673771.1:c.444G>A ENSP00000501023.1:p.Glu148=
ENST00000673774.1:n.1572G>A
ENST00000673851.1:c.444G>A ENSP00000501142.1:p.Glu148=
ENST00000673854.1:n.5861G>A
ENST00000673886.1:c.444G>A ENSP00000501155.1:p.Glu148=
ENST00000673890.1:c.444G>A ENSP00000501293.1:p.Glu148=
ENST00000673928.1:c.444G>A ENSP00000501099.1:p.Glu148=
ENST00000673936.1:c.444G>A ENSP00000501189.1:p.Glu148=
ENST00000673939.1:c.*159G>A ENSP00000501129.1:n.*159G>A
ENST00000673950.1:n.713G>A
ENST00000673978.1:c.582G>A ENSP00000500976.1:p.Glu194=
ENST00000673987.1:c.*159G>A ENSP00000501231.1:n.*159G>A
ENST00000674011.1:c.*233G>A ENSP00000501171.1:n.*233G>A
ENST00000674018.1:c.444G>A ENSP00000501271.1:p.Glu148=
ENST00000674027.1:n.590G>A
ENST00000674041.1:c.444G>A ENSP00000500956.1:p.Glu148=
ENST00000674052.1:c.663G>A ENSP00000501057.1:p.Glu221=
ENST00000674093.1:c.444G>A ENSP00000501303.1:p.Glu148=
ENST00000674119.1:c.444G>A ENSP00000501217.1:p.Glu148=
ENST00000674139.1:c.444G>A ENSP00000501054.1:p.Glu148=
ENST00000674146.1:c.444G>A ENSP00000501175.1:p.Glu148=
ENST00000674149.1:c.444G>A ENSP00000501112.1:p.Glu148=
ENST00000318023.11:c.2295G>A ENSP00000326281.8:p.Glu765=
ENST00000337571.8:c.444G>A ENSP00000336840.4:p.Glu148=
ENST00000349748.7:c.2163G>A ENSP00000183936.4:p.Glu721=
ENST00000356316.7:c.444G>A ENSP00000348667.4:p.Glu148=
ENST00000357568.7:c.2421G>A ENSP00000350181.3:p.Glu807=
ENST00000397163.7:c.2439G>A ENSP00000380349.3:p.Glu813=
ENST00000397200.8:c.903G>A ENSP00000380384.4:p.Glu301=
ENST00000397204.8:c.444G>A ENSP00000380387.4:p.Glu148=
ENST00000466222.6:n.1362G>A
ENST00000561817.5:c.444G>A ENSP00000456575.1:p.Glu148=
ENST00000564503.5:c.482G>A
ENST00000565274.5:c.617G>A ENSP00000457759.1:n.617G>A
ENST00000567817.5:c.255G>A ENSP00000456514.1:p.Glu85=
ENST00000568153.1:c.176G>A
ENST00000569136.5:c.444G>A ENSP00000455254.1:p.Glu148=
NM_000070.2:c.2439G>A NP_000061.1:p.Glu813=
NM_024344.1:c.2421G>A NP_077320.1:p.Glu807=
NM_173087.1:c.2163G>A NP_775110.1:p.Glu721=
NM_173088.1:c.903G>A NP_775111.1:p.Glu301=
NM_173089.1:c.444G>A NP_775112.1:p.Glu148=
NM_173090.1:c.444G>A NP_775113.1:p.Glu148=
NM_000070.3:c.2439G>A MANE Select NP_000061.1:p.Glu813=
NM_024344.2:c.2421G>A NP_077320.1:p.Glu807=
NM_173087.2:c.2163G>A NP_775110.1:p.Glu721=
NM_173088.2:c.903G>A NP_775111.1:p.Glu301=
NM_173089.2:c.444G>A NP_775112.1:p.Glu148=
NM_173090.2:c.444G>A NP_775113.1:p.Glu148=