Canonical Allele Identifier: CA242275

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 195719
• ClinVar RCV Id: RCV000176354 ; RCV002517696
• dbSNP Id: rs143139259
• gnomAD v4: 15-42411315-A-T
• MyVariant Identifiers: chr15:g.42703513A>T (hg19) ; chr15:g.42411315A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411315A>T , CM000677.2:g.42411315A>T	GRCh38
NC_000015.9:g.42703513A>T , CM000677.1:g.42703513A>T	GRCh37
NC_000015.8:g.40490805A>T	NCBI36
NG_008660.1:g.68213A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.414A>T	ENSP00000336840.4:p.Gly138=
ENST00000349748.8:c.2133A>T	ENSP00000183936.4:p.Gly711=
ENST00000357568.8:c.2391A>T	ENSP00000350181.3:p.Gly797=
ENST00000397163.8:c.2409A>T MANE Select	ENSP00000380349.3:p.Gly803=
ENST00000397204.9:c.414A>T	ENSP00000380387.4:p.Gly138=
ENST00000466222.7:n.780A>T
ENST00000466369.5:n.2900A>T
ENST00000495723.1:n.3280A>T
ENST00000549793.5:n.2622A>T
ENST00000562199.2:c.413A>T	ENSP00000501034.1:n.413A>T
ENST00000567817.6:c.198A>T	ENSP00000456514.2:p.Gly66=
ENST00000568153.2:c.275A>T
ENST00000569136.6:c.414A>T	ENSP00000455254.1:p.Gly138=
ENST00000638141.2:n.2148A>T
ENST00000673646.1:c.973A>T	ENSP00000501007.1:n.973A>T
ENST00000673684.1:n.391A>T
ENST00000673692.1:c.414A>T	ENSP00000501138.1:p.Gly138=
ENST00000673705.1:c.1238A>T	ENSP00000501021.1:n.1238A>T
ENST00000673743.1:c.312A>T	ENSP00000500989.1:p.Gly104=
ENST00000673750.1:c.414A>T	ENSP00000501173.1:p.Gly138=
ENST00000673771.1:c.414A>T	ENSP00000501023.1:p.Gly138=
ENST00000673774.1:n.1542A>T
ENST00000673839.1:c.414A>T	ENSP00000501188.1:p.Gly138=
ENST00000673851.1:c.414A>T	ENSP00000501142.1:p.Gly138=
ENST00000673854.1:n.5831A>T
ENST00000673886.1:c.414A>T	ENSP00000501155.1:p.Gly138=
ENST00000673890.1:c.414A>T	ENSP00000501293.1:p.Gly138=
ENST00000673928.1:c.414A>T	ENSP00000501099.1:p.Gly138=
ENST00000673936.1:c.414A>T	ENSP00000501189.1:p.Gly138=
ENST00000673939.1:c.*129A>T	ENSP00000501129.1:n.*129A>T
ENST00000673950.1:n.683A>T
ENST00000673978.1:c.552A>T	ENSP00000500976.1:p.Gly184=
ENST00000673987.1:c.*129A>T	ENSP00000501231.1:n.*129A>T
ENST00000674011.1:c.*203A>T	ENSP00000501171.1:n.*203A>T
ENST00000674018.1:c.414A>T	ENSP00000501271.1:p.Gly138=
ENST00000674027.1:n.560A>T
ENST00000674041.1:c.414A>T	ENSP00000500956.1:p.Gly138=
ENST00000674052.1:c.633A>T	ENSP00000501057.1:p.Gly211=
ENST00000674093.1:c.414A>T	ENSP00000501303.1:p.Gly138=
ENST00000674119.1:c.414A>T	ENSP00000501217.1:p.Gly138=
ENST00000674135.1:c.591A>T	ENSP00000501178.1:p.Gly197=
ENST00000674139.1:c.414A>T	ENSP00000501054.1:p.Gly138=
ENST00000674146.1:c.414A>T	ENSP00000501175.1:p.Gly138=
ENST00000674149.1:c.414A>T	ENSP00000501112.1:p.Gly138=
ENST00000318023.11:c.2265A>T	ENSP00000326281.8:p.Gly755=
ENST00000337571.8:c.414A>T	ENSP00000336840.4:p.Gly138=
ENST00000349748.7:c.2133A>T	ENSP00000183936.4:p.Gly711=
ENST00000356316.7:c.414A>T	ENSP00000348667.4:p.Gly138=
ENST00000357568.7:c.2391A>T	ENSP00000350181.3:p.Gly797=
ENST00000397163.7:c.2409A>T	ENSP00000380349.3:p.Gly803=
ENST00000397200.8:c.873A>T	ENSP00000380384.4:p.Gly291=
ENST00000397204.8:c.414A>T	ENSP00000380387.4:p.Gly138=
ENST00000466222.6:n.1332A>T
ENST00000561817.5:c.414A>T	ENSP00000456575.1:p.Gly138=
ENST00000564503.5:c.452A>T
ENST00000565274.5:c.587A>T	ENSP00000457759.1:n.587A>T
ENST00000567817.5:c.225A>T	ENSP00000456514.1:p.Gly75=
ENST00000568153.1:c.146A>T
ENST00000569136.5:c.414A>T	ENSP00000455254.1:p.Gly138=
ENST00000569827.5:c.741A>T	ENSP00000454379.1:p.Gly247=
NM_000070.2:c.2409A>T	NP_000061.1:p.Gly803=
NM_024344.1:c.2391A>T	NP_077320.1:p.Gly797=
NM_173087.1:c.2133A>T	NP_775110.1:p.Gly711=
NM_173088.1:c.873A>T	NP_775111.1:p.Gly291=
NM_173089.1:c.414A>T	NP_775112.1:p.Gly138=
NM_173090.1:c.414A>T	NP_775113.1:p.Gly138=
NM_000070.3:c.2409A>T MANE Select	NP_000061.1:p.Gly803=
NM_024344.2:c.2391A>T	NP_077320.1:p.Gly797=
NM_173087.2:c.2133A>T	NP_775110.1:p.Gly711=
NM_173088.2:c.873A>T	NP_775111.1:p.Gly291=
NM_173089.2:c.414A>T	NP_775112.1:p.Gly138=
NM_173090.2:c.414A>T	NP_775113.1:p.Gly138=