Canonical Allele Identifier: CA235924
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 191056
dbSNP Id: rs149969786

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410949A>G , CM000677.2:g.42410949A>G GRCh38
NC_000015.9:g.42703147A>G , CM000677.1:g.42703147A>G GRCh37
NC_000015.8:g.40490439A>G NCBI36
NG_008660.1:g.67847A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337571.9:c.334A>G ENSP00000336840.4:p.Ile112Val
ENST00000349748.8:c.2053A>G ENSP00000183936.4:p.Ile685Val
ENST00000357568.8:c.2311A>G ENSP00000350181.3:p.Ile771Val
ENST00000397163.8:c.2329A>G MANE Select ENSP00000380349.3:p.Ile777Val
ENST00000397204.9:c.334A>G ENSP00000380387.4:p.Ile112Val
ENST00000466222.7:n.751+23A>G
ENST00000466369.5:n.2820A>G
ENST00000495723.1:n.3200A>G
ENST00000549793.5:n.2542A>G
ENST00000562199.2:n.333A>G
ENST00000567817.6:n.118A>G ENSP00000456514.2:p.Ile40Val
ENST00000568153.2:n.195A>G
ENST00000569136.6:c.334A>G ENSP00000455254.1:p.Ile112Val
ENST00000638141.2:n.2068A>G
ENST00000673646.1:n.893A>G ENSP00000501007.1:p.=
ENST00000673684.1:n.311A>G
ENST00000673692.1:c.334A>G ENSP00000501138.1:p.Ile112Val
ENST00000673705.1:n.872A>G ENSP00000501021.1:p.=
ENST00000673743.1:c.232A>G ENSP00000500989.1:p.Ile78Val
ENST00000673750.1:c.334A>G ENSP00000501173.1:p.Ile112Val
ENST00000673771.1:c.334A>G ENSP00000501023.1:p.Ile112Val
ENST00000673774.1:n.1462A>G
ENST00000673839.1:c.334A>G ENSP00000501188.1:p.Ile112Val
ENST00000673851.1:c.334A>G ENSP00000501142.1:p.Ile112Val
ENST00000673854.1:n.5751A>G
ENST00000673886.1:c.334A>G ENSP00000501155.1:p.Ile112Val
ENST00000673890.1:c.334A>G ENSP00000501293.1:p.Ile112Val
ENST00000673928.1:c.334A>G ENSP00000501099.1:p.Ile112Val
ENST00000673936.1:c.334A>G ENSP00000501189.1:p.Ile112Val
ENST00000673939.1:c.*100+23A>G ENSP00000501129.1:p.=
ENST00000673950.1:n.603A>G
ENST00000673978.1:c.472A>G ENSP00000500976.1:p.Ile158Val
ENST00000673987.1:c.*100+23A>G ENSP00000501231.1:p.=
ENST00000674011.1:c.*123A>G ENSP00000501171.1:p.=
ENST00000674018.1:c.334A>G ENSP00000501271.1:p.Ile112Val
ENST00000674027.1:n.480A>G
ENST00000674041.1:c.334A>G ENSP00000500956.1:p.Ile112Val
ENST00000674052.1:c.553A>G ENSP00000501057.1:p.Ile185Val
ENST00000674093.1:c.334A>G ENSP00000501303.1:p.Ile112Val
ENST00000674119.1:c.334A>G ENSP00000501217.1:p.Ile112Val
ENST00000674135.1:c.511A>G ENSP00000501178.1:p.Ile171Val
ENST00000674139.1:c.334A>G ENSP00000501054.1:p.Ile112Val
ENST00000674146.1:c.334A>G ENSP00000501175.1:p.Ile112Val
ENST00000674149.1:c.334A>G ENSP00000501112.1:p.Ile112Val
ENST00000318023.11:c.2185A>G ENSP00000326281.8:p.Ile729Val
ENST00000337571.8:c.334A>G ENSP00000336840.4:p.Ile112Val
ENST00000349748.7:c.2053A>G ENSP00000183936.4:p.Ile685Val
ENST00000356316.7:c.334A>G ENSP00000348667.4:p.Ile112Val
ENST00000357568.7:c.2311A>G ENSP00000350181.3:p.Ile771Val
ENST00000397163.7:c.2329A>G ENSP00000380349.3:p.Ile777Val
ENST00000397200.8:c.793A>G ENSP00000380384.4:p.Ile265Val
ENST00000397204.8:c.334A>G ENSP00000380387.4:p.Ile112Val
ENST00000466222.6:n.1252A>G
ENST00000561817.5:c.334A>G ENSP00000456575.1:p.Ile112Val
ENST00000562199.1:n.333A>G
ENST00000564503.5:n.372A>G
ENST00000565274.5:n.507A>G ENSP00000457759.1:p.=
ENST00000567817.5:n.145A>G ENSP00000456514.1:p.Ile49Val
ENST00000568153.1:n.66A>G
ENST00000569136.5:c.334A>G ENSP00000455254.1:p.Ile112Val
ENST00000569827.5:c.661A>G ENSP00000454379.1:p.Ile221Val
NM_000070.2:c.2329A>G NP_000061.1:p.Ile777Val
NM_024344.1:c.2311A>G NP_077320.1:p.Ile771Val
NM_173087.1:c.2053A>G NP_775110.1:p.Ile685Val
NM_173088.1:c.793A>G NP_775111.1:p.Ile265Val
NM_173089.1:c.334A>G NP_775112.1:p.Ile112Val
NM_173090.1:c.334A>G NP_775113.1:p.Ile112Val
NM_000070.3:c.2329A>G MANE Select NP_000061.1:p.Ile777Val
NM_024344.2:c.2311A>G NP_077320.1:p.Ile771Val
NM_173087.2:c.2053A>G NP_775110.1:p.Ile685Val
NM_173088.2:c.793A>G NP_775111.1:p.Ile265Val
NM_173089.2:c.334A>G NP_775112.1:p.Ile112Val
NM_173090.2:c.334A>G NP_775113.1:p.Ile112Val