Canonical Allele Identifier: CA392001682

Gene: CAPN3

Linked Data

• dbSNP Id: rs1351586112
• gnomAD v2: 15-42702664-C-A
• gnomAD v3: 15-42410466-C-A
• gnomAD v4: 15-42410466-C-A
• MyVariant Identifiers: chr15:g.42702664C>A (hg19) ; chr15:g.42410466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410466C>A , CM000677.2:g.42410466C>A	GRCh38
NC_000015.9:g.42702664C>A , CM000677.1:g.42702664C>A	GRCh37
NC_000015.8:g.40489956C>A	NCBI36
NG_008660.1:g.67364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.159C>A	ENSP00000336840.4:p.His53Gln
ENST00000349748.8:c.1878C>A	ENSP00000183936.4:p.His626Gln
ENST00000357568.8:c.2136C>A	ENSP00000350181.3:p.His712Gln
ENST00000397163.8:c.2154C>A MANE Select	ENSP00000380349.3:p.His718Gln
ENST00000397204.9:c.159C>A	ENSP00000380387.4:p.His53Gln
ENST00000466222.7:n.419C>A
ENST00000466369.5:n.2645C>A
ENST00000495723.1:n.3025C>A
ENST00000549793.5:n.2367C>A
ENST00000562199.2:c.158C>A	ENSP00000501034.1:p.Thr53Asn
ENST00000568153.2:c.20C>A
ENST00000569136.6:c.159C>A	ENSP00000455254.1:p.His53Gln
ENST00000638141.2:n.1893C>A
ENST00000673646.1:c.718C>A	ENSP00000501007.1:n.718C>A
ENST00000673684.1:n.136C>A
ENST00000673687.1:n.663C>A
ENST00000673692.1:c.159C>A	ENSP00000501138.1:p.His53Gln
ENST00000673705.1:c.511-122C>A	ENSP00000501021.1:n.511-122C>A
ENST00000673743.1:c.57C>A	ENSP00000500989.1:p.His19Gln
ENST00000673750.1:c.159C>A	ENSP00000501173.1:p.His53Gln
ENST00000673771.1:c.159C>A	ENSP00000501023.1:p.His53Gln
ENST00000673774.1:n.1287C>A
ENST00000673839.1:c.159C>A	ENSP00000501188.1:p.His53Gln
ENST00000673851.1:c.159C>A	ENSP00000501142.1:p.His53Gln
ENST00000673854.1:n.5576C>A
ENST00000673886.1:c.159C>A	ENSP00000501155.1:p.His53Gln
ENST00000673890.1:c.159C>A	ENSP00000501293.1:p.His53Gln
ENST00000673893.1:c.357C>A	ENSP00000500987.1:n.357C>A
ENST00000673928.1:c.159C>A	ENSP00000501099.1:p.His53Gln
ENST00000673936.1:c.159C>A	ENSP00000501189.1:p.His53Gln
ENST00000673939.1:c.159C>A	ENSP00000501129.1:p.His53Gln
ENST00000673950.1:n.428C>A
ENST00000673978.1:c.297C>A	ENSP00000500976.1:p.His99Gln
ENST00000673987.1:c.159C>A	ENSP00000501231.1:p.His53Gln
ENST00000674011.1:c.159C>A	ENSP00000501171.1:p.His53Gln
ENST00000674018.1:c.159C>A	ENSP00000501271.1:p.His53Gln
ENST00000674027.1:n.214C>A
ENST00000674041.1:c.159C>A	ENSP00000500956.1:p.His53Gln
ENST00000674052.1:c.378C>A	ENSP00000501057.1:p.His126Gln
ENST00000674093.1:c.159C>A	ENSP00000501303.1:p.His53Gln
ENST00000674119.1:c.159C>A	ENSP00000501217.1:p.His53Gln
ENST00000674135.1:c.336C>A	ENSP00000501178.1:p.His112Gln
ENST00000674139.1:c.159C>A	ENSP00000501054.1:p.His53Gln
ENST00000674146.1:c.159C>A	ENSP00000501175.1:p.His53Gln
ENST00000674149.1:c.159C>A	ENSP00000501112.1:p.His53Gln
ENST00000318023.11:c.2010C>A	ENSP00000326281.8:p.His670Gln
ENST00000337571.8:c.159C>A	ENSP00000336840.4:p.His53Gln
ENST00000349748.7:c.1878C>A	ENSP00000183936.4:p.His626Gln
ENST00000356316.7:c.159C>A	ENSP00000348667.4:p.His53Gln
ENST00000357568.7:c.2136C>A	ENSP00000350181.3:p.His712Gln
ENST00000397163.7:c.2154C>A	ENSP00000380349.3:p.His718Gln
ENST00000397200.8:c.618C>A	ENSP00000380384.4:p.His206Gln
ENST00000397204.8:c.159C>A	ENSP00000380387.4:p.His53Gln
ENST00000466222.6:n.1077C>A
ENST00000561817.5:c.159C>A	ENSP00000456575.1:p.His53Gln
ENST00000562199.1:n.158C>A
ENST00000564503.5:c.251C>A
ENST00000565274.5:c.386C>A	ENSP00000457759.1:n.386C>A
ENST00000565559.5:c.336C>A	ENSP00000457878.1:p.His112Gln
ENST00000569136.5:c.159C>A	ENSP00000455254.1:p.His53Gln
ENST00000569827.5:c.486C>A	ENSP00000454379.1:p.His162Gln
NM_000070.2:c.2154C>A	NP_000061.1:p.His718Gln
NM_024344.1:c.2136C>A	NP_077320.1:p.His712Gln
NM_173087.1:c.1878C>A	NP_775110.1:p.His626Gln
NM_173088.1:c.618C>A	NP_775111.1:p.His206Gln
NM_173089.1:c.159C>A	NP_775112.1:p.His53Gln
NM_173090.1:c.159C>A	NP_775113.1:p.His53Gln
NM_000070.3:c.2154C>A MANE Select	NP_000061.1:p.His718Gln
NM_024344.2:c.2136C>A	NP_077320.1:p.His712Gln
NM_173087.2:c.1878C>A	NP_775110.1:p.His626Gln
NM_173088.2:c.618C>A	NP_775111.1:p.His206Gln
NM_173089.2:c.159C>A	NP_775112.1:p.His53Gln
NM_173090.2:c.159C>A	NP_775113.1:p.His53Gln