Canonical Allele Identifier: CA392002091
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 426275
ClinVar RCV Id: RCV000489841
dbSNP Id: rs1085307534
MyVariant Identifiers: chr15:g.42703145A>G (hg19) chr15:g.42410947A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42410947A>G , CM000677.2:g.42410947A>G GRCh38
NC_000015.9:g.42703145A>G , CM000677.1:g.42703145A>G GRCh37
NC_000015.8:g.40490437A>G NCBI36
NG_008660.1:g.67845A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337571.9:c.332A>G ENSP00000336840.4:p.Asn111Ser
ENST00000349748.8:c.2051A>G ENSP00000183936.4:p.Asn684Ser
ENST00000357568.8:c.2309A>G ENSP00000350181.3:p.Asn770Ser
ENST00000397163.8:c.2327A>G MANE Select ENSP00000380349.3:p.Asn776Ser
ENST00000397204.9:c.332A>G ENSP00000380387.4:p.Asn111Ser
ENST00000466222.7:n.751+21A>G
ENST00000466369.5:n.2818A>G
ENST00000495723.1:n.3198A>G
ENST00000549793.5:n.2540A>G
ENST00000562199.2:c.331A>G ENSP00000501034.1:n.331A>G
ENST00000567817.6:c.116A>G ENSP00000456514.2:p.Asn39Ser
ENST00000568153.2:c.193A>G
ENST00000569136.6:c.332A>G ENSP00000455254.1:p.Asn111Ser
ENST00000638141.2:n.2066A>G
ENST00000673646.1:c.891A>G ENSP00000501007.1:n.891A>G
ENST00000673684.1:n.309A>G
ENST00000673692.1:c.332A>G ENSP00000501138.1:p.Asn111Ser
ENST00000673705.1:c.870A>G ENSP00000501021.1:n.870A>G
ENST00000673743.1:c.230A>G ENSP00000500989.1:p.Asn77Ser
ENST00000673750.1:c.332A>G ENSP00000501173.1:p.Asn111Ser
ENST00000673771.1:c.332A>G ENSP00000501023.1:p.Asn111Ser
ENST00000673774.1:n.1460A>G
ENST00000673839.1:c.332A>G ENSP00000501188.1:p.Asn111Ser
ENST00000673851.1:c.332A>G ENSP00000501142.1:p.Asn111Ser
ENST00000673854.1:n.5749A>G
ENST00000673886.1:c.332A>G ENSP00000501155.1:p.Asn111Ser
ENST00000673890.1:c.332A>G ENSP00000501293.1:p.Asn111Ser
ENST00000673928.1:c.332A>G ENSP00000501099.1:p.Asn111Ser
ENST00000673936.1:c.332A>G ENSP00000501189.1:p.Asn111Ser
ENST00000673939.1:c.*100+21A>G ENSP00000501129.1:n.*100+21A>G
ENST00000673950.1:n.601A>G
ENST00000673978.1:c.470A>G ENSP00000500976.1:p.Asn157Ser
ENST00000673987.1:c.*100+21A>G ENSP00000501231.1:n.*100+21A>G
ENST00000674011.1:c.*121A>G ENSP00000501171.1:n.*121A>G
ENST00000674018.1:c.332A>G ENSP00000501271.1:p.Asn111Ser
ENST00000674027.1:n.478A>G
ENST00000674041.1:c.332A>G ENSP00000500956.1:p.Asn111Ser
ENST00000674052.1:c.551A>G ENSP00000501057.1:p.Asn184Ser
ENST00000674093.1:c.332A>G ENSP00000501303.1:p.Asn111Ser
ENST00000674119.1:c.332A>G ENSP00000501217.1:p.Asn111Ser
ENST00000674135.1:c.509A>G ENSP00000501178.1:p.Asn170Ser
ENST00000674139.1:c.332A>G ENSP00000501054.1:p.Asn111Ser
ENST00000674146.1:c.332A>G ENSP00000501175.1:p.Asn111Ser
ENST00000674149.1:c.332A>G ENSP00000501112.1:p.Asn111Ser
ENST00000318023.11:c.2183A>G ENSP00000326281.8:p.Asn728Ser
ENST00000337571.8:c.332A>G ENSP00000336840.4:p.Asn111Ser
ENST00000349748.7:c.2051A>G ENSP00000183936.4:p.Asn684Ser
ENST00000356316.7:c.332A>G ENSP00000348667.4:p.Asn111Ser
ENST00000357568.7:c.2309A>G ENSP00000350181.3:p.Asn770Ser
ENST00000397163.7:c.2327A>G ENSP00000380349.3:p.Asn776Ser
ENST00000397200.8:c.791A>G ENSP00000380384.4:p.Asn264Ser
ENST00000397204.8:c.332A>G ENSP00000380387.4:p.Asn111Ser
ENST00000466222.6:n.1250A>G
ENST00000561817.5:c.332A>G ENSP00000456575.1:p.Asn111Ser
ENST00000562199.1:n.331A>G
ENST00000564503.5:c.370A>G
ENST00000565274.5:c.505A>G ENSP00000457759.1:n.505A>G
ENST00000567817.5:c.143A>G ENSP00000456514.1:p.Asn48Ser
ENST00000568153.1:c.64A>G
ENST00000569136.5:c.332A>G ENSP00000455254.1:p.Asn111Ser
ENST00000569827.5:c.659A>G ENSP00000454379.1:p.Asn220Ser
NM_000070.2:c.2327A>G NP_000061.1:p.Asn776Ser
NM_024344.1:c.2309A>G NP_077320.1:p.Asn770Ser
NM_173087.1:c.2051A>G NP_775110.1:p.Asn684Ser
NM_173088.1:c.791A>G NP_775111.1:p.Asn264Ser
NM_173089.1:c.332A>G NP_775112.1:p.Asn111Ser
NM_173090.1:c.332A>G NP_775113.1:p.Asn111Ser
NM_000070.3:c.2327A>G MANE Select NP_000061.1:p.Asn776Ser
NM_024344.2:c.2309A>G NP_077320.1:p.Asn770Ser
NM_173087.2:c.2051A>G NP_775110.1:p.Asn684Ser
NM_173088.2:c.791A>G NP_775111.1:p.Asn264Ser
NM_173089.2:c.332A>G NP_775112.1:p.Asn111Ser
NM_173090.2:c.332A>G NP_775113.1:p.Asn111Ser
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