Canonical Allele Identifier: CA10606801

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 290519
• ClinVar RCV Id: RCV000375361 ; RCV000726501
• dbSNP Id: rs886044475
• gnomAD v4: 15-42410667-G-A
• MyVariant Identifiers: chr15:g.42702865G>A (hg19) ; chr15:g.42410667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410667G>A , CM000677.2:g.42410667G>A	GRCh38
NC_000015.9:g.42702865G>A , CM000677.1:g.42702865G>A	GRCh37
NC_000015.8:g.40490157G>A	NCBI36
NG_008660.1:g.67565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.268+1G>A	ENSP00000336840.4:n.268+1G>A
ENST00000349748.8:c.1987+1G>A	ENSP00000183936.4:n.1987+1G>A
ENST00000357568.8:c.2245+1G>A	ENSP00000350181.3:n.2245+1G>A
ENST00000397163.8:c.2263+1G>A MANE Select	ENSP00000380349.3:n.2263+1G>A
ENST00000397204.9:c.268+1G>A	ENSP00000380387.4:n.268+1G>A
ENST00000466222.7:n.619+1G>A
ENST00000466369.5:n.2754+1G>A
ENST00000495723.1:n.3134+1G>A
ENST00000549793.5:n.2476+1G>A
ENST00000562199.2:c.267+1G>A	ENSP00000501034.1:n.267+1G>A
ENST00000567817.6:c.52+1G>A	ENSP00000456514.2:n.52+1G>A
ENST00000568153.2:c.129+1G>A
ENST00000569136.6:c.268+1G>A	ENSP00000455254.1:n.268+1G>A
ENST00000638141.2:n.2002+1G>A
ENST00000673646.1:c.827+1G>A	ENSP00000501007.1:n.827+1G>A
ENST00000673684.1:n.245+1G>A
ENST00000673687.1:n.864G>A
ENST00000673692.1:c.268+1G>A	ENSP00000501138.1:n.268+1G>A
ENST00000673705.1:c.590G>A	ENSP00000501021.1:n.590G>A
ENST00000673743.1:c.166+1G>A	ENSP00000500989.1:n.166+1G>A
ENST00000673750.1:c.268+1G>A	ENSP00000501173.1:n.268+1G>A
ENST00000673771.1:c.268+1G>A	ENSP00000501023.1:n.268+1G>A
ENST00000673774.1:n.1396+1G>A
ENST00000673839.1:c.268+1G>A	ENSP00000501188.1:n.268+1G>A
ENST00000673851.1:c.268+1G>A	ENSP00000501142.1:n.268+1G>A
ENST00000673854.1:n.5685+1G>A
ENST00000673886.1:c.268+1G>A	ENSP00000501155.1:n.268+1G>A
ENST00000673890.1:c.268+1G>A	ENSP00000501293.1:n.268+1G>A
ENST00000673928.1:c.268+1G>A	ENSP00000501099.1:n.268+1G>A
ENST00000673936.1:c.268+1G>A	ENSP00000501189.1:n.268+1G>A
ENST00000673939.1:c.268+1G>A	ENSP00000501129.1:n.268+1G>A
ENST00000673950.1:n.537+1G>A
ENST00000673978.1:c.406+1G>A	ENSP00000500976.1:n.406+1G>A
ENST00000673987.1:c.268+1G>A	ENSP00000501231.1:n.268+1G>A
ENST00000674011.1:c.268+1G>A	ENSP00000501171.1:n.268+1G>A
ENST00000674018.1:c.268+1G>A	ENSP00000501271.1:n.268+1G>A
ENST00000674027.1:n.414+1G>A
ENST00000674041.1:c.268+1G>A	ENSP00000500956.1:n.268+1G>A
ENST00000674052.1:c.487+1G>A	ENSP00000501057.1:n.487+1G>A
ENST00000674093.1:c.268+1G>A	ENSP00000501303.1:n.268+1G>A
ENST00000674119.1:c.268+1G>A	ENSP00000501217.1:n.268+1G>A
ENST00000674135.1:c.445+1G>A	ENSP00000501178.1:n.445+1G>A
ENST00000674139.1:c.268+1G>A	ENSP00000501054.1:n.268+1G>A
ENST00000674146.1:c.268+1G>A	ENSP00000501175.1:n.268+1G>A
ENST00000674149.1:c.268+1G>A	ENSP00000501112.1:n.268+1G>A
ENST00000318023.11:c.2119+1G>A	ENSP00000326281.8:n.2119+1G>A
ENST00000337571.8:c.268+1G>A	ENSP00000336840.4:n.268+1G>A
ENST00000349748.7:c.1987+1G>A	ENSP00000183936.4:n.1987+1G>A
ENST00000356316.7:c.268+1G>A	ENSP00000348667.4:n.268+1G>A
ENST00000357568.7:c.2245+1G>A	ENSP00000350181.3:n.2245+1G>A
ENST00000397163.7:c.2263+1G>A	ENSP00000380349.3:n.2263+1G>A
ENST00000397200.8:c.727+1G>A	ENSP00000380384.4:n.727+1G>A
ENST00000397204.8:c.268+1G>A	ENSP00000380387.4:n.268+1G>A
ENST00000466222.6:n.1186+1G>A
ENST00000561817.5:c.268+1G>A	ENSP00000456575.1:n.268+1G>A
ENST00000562199.1:n.267+1G>A
ENST00000564503.5:c.306+1G>A
ENST00000565274.5:c.441+1G>A	ENSP00000457759.1:n.441+1G>A
ENST00000565559.5:c.445+1G>A	ENSP00000457878.1:n.445+1G>A
ENST00000567817.5:c.79+1G>A	ENSP00000456514.1:n.79+1G>A
ENST00000569136.5:c.268+1G>A	ENSP00000455254.1:n.268+1G>A
ENST00000569827.5:c.595+1G>A	ENSP00000454379.1:n.595+1G>A
NM_000070.2:c.2263+1G>A	NP_000061.1:n.2263+1G>A
NM_024344.1:c.2245+1G>A	NP_077320.1:n.2245+1G>A
NM_173087.1:c.1987+1G>A	NP_775110.1:n.1987+1G>A
NM_173088.1:c.727+1G>A	NP_775111.1:n.727+1G>A
NM_173089.1:c.268+1G>A	NP_775112.1:n.268+1G>A
NM_173090.1:c.268+1G>A	NP_775113.1:n.268+1G>A
NM_000070.3:c.2263+1G>A MANE Select	NP_000061.1:n.2263+1G>A
NM_024344.2:c.2245+1G>A	NP_077320.1:n.2245+1G>A
NM_173087.2:c.1987+1G>A	NP_775110.1:n.1987+1G>A
NM_173088.2:c.727+1G>A	NP_775111.1:n.727+1G>A
NM_173089.2:c.268+1G>A	NP_775112.1:n.268+1G>A
NM_173090.2:c.268+1G>A	NP_775113.1:n.268+1G>A