Canonical Allele Identifier: CA392002323

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42703527A>G (hg19) ; chr15:g.42411329A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411329A>G , CM000677.2:g.42411329A>G	GRCh38
NC_000015.9:g.42703527A>G , CM000677.1:g.42703527A>G	GRCh37
NC_000015.8:g.40490819A>G	NCBI36
NG_008660.1:g.68227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.428A>G	ENSP00000336840.4:p.Lys143Arg
ENST00000349748.8:c.2147A>G	ENSP00000183936.4:p.Lys716Arg
ENST00000357568.8:c.2405A>G	ENSP00000350181.3:p.Lys802Arg
ENST00000397163.8:c.2423A>G MANE Select	ENSP00000380349.3:p.Lys808Arg
ENST00000397204.9:c.428A>G	ENSP00000380387.4:p.Lys143Arg
ENST00000466222.7:n.794A>G
ENST00000466369.5:n.2914A>G
ENST00000495723.1:n.3294A>G
ENST00000549793.5:n.2636A>G
ENST00000562199.2:c.427A>G	ENSP00000501034.1:n.427A>G
ENST00000567817.6:c.212A>G	ENSP00000456514.2:p.Lys71Arg
ENST00000568153.2:c.289A>G
ENST00000569136.6:c.428A>G	ENSP00000455254.1:p.Lys143Arg
ENST00000638141.2:n.2162A>G
ENST00000673646.1:c.987A>G	ENSP00000501007.1:n.987A>G
ENST00000673684.1:n.405A>G
ENST00000673692.1:c.428A>G	ENSP00000501138.1:p.Lys143Arg
ENST00000673705.1:c.1252A>G	ENSP00000501021.1:n.1252A>G
ENST00000673743.1:c.326A>G	ENSP00000500989.1:p.Lys109Arg
ENST00000673750.1:c.428A>G	ENSP00000501173.1:p.Lys143Arg
ENST00000673771.1:c.428A>G	ENSP00000501023.1:p.Lys143Arg
ENST00000673774.1:n.1556A>G
ENST00000673839.1:c.428A>G	ENSP00000501188.1:p.Lys143Arg
ENST00000673851.1:c.428A>G	ENSP00000501142.1:p.Lys143Arg
ENST00000673854.1:n.5845A>G
ENST00000673886.1:c.428A>G	ENSP00000501155.1:p.Lys143Arg
ENST00000673890.1:c.428A>G	ENSP00000501293.1:p.Lys143Arg
ENST00000673928.1:c.428A>G	ENSP00000501099.1:p.Lys143Arg
ENST00000673936.1:c.428A>G	ENSP00000501189.1:p.Lys143Arg
ENST00000673939.1:c.*143A>G	ENSP00000501129.1:n.*143A>G
ENST00000673950.1:n.697A>G
ENST00000673978.1:c.566A>G	ENSP00000500976.1:p.Lys189Arg
ENST00000673987.1:c.*143A>G	ENSP00000501231.1:n.*143A>G
ENST00000674011.1:c.*217A>G	ENSP00000501171.1:n.*217A>G
ENST00000674018.1:c.428A>G	ENSP00000501271.1:p.Lys143Arg
ENST00000674027.1:n.574A>G
ENST00000674041.1:c.428A>G	ENSP00000500956.1:p.Lys143Arg
ENST00000674052.1:c.647A>G	ENSP00000501057.1:p.Lys216Arg
ENST00000674093.1:c.428A>G	ENSP00000501303.1:p.Lys143Arg
ENST00000674119.1:c.428A>G	ENSP00000501217.1:p.Lys143Arg
ENST00000674139.1:c.428A>G	ENSP00000501054.1:p.Lys143Arg
ENST00000674146.1:c.428A>G	ENSP00000501175.1:p.Lys143Arg
ENST00000674149.1:c.428A>G	ENSP00000501112.1:p.Lys143Arg
ENST00000318023.11:c.2279A>G	ENSP00000326281.8:p.Lys760Arg
ENST00000337571.8:c.428A>G	ENSP00000336840.4:p.Lys143Arg
ENST00000349748.7:c.2147A>G	ENSP00000183936.4:p.Lys716Arg
ENST00000356316.7:c.428A>G	ENSP00000348667.4:p.Lys143Arg
ENST00000357568.7:c.2405A>G	ENSP00000350181.3:p.Lys802Arg
ENST00000397163.7:c.2423A>G	ENSP00000380349.3:p.Lys808Arg
ENST00000397200.8:c.887A>G	ENSP00000380384.4:p.Lys296Arg
ENST00000397204.8:c.428A>G	ENSP00000380387.4:p.Lys143Arg
ENST00000466222.6:n.1346A>G
ENST00000561817.5:c.428A>G	ENSP00000456575.1:p.Lys143Arg
ENST00000564503.5:c.466A>G
ENST00000565274.5:c.601A>G	ENSP00000457759.1:n.601A>G
ENST00000567817.5:c.239A>G	ENSP00000456514.1:p.Lys80Arg
ENST00000568153.1:c.160A>G
ENST00000569136.5:c.428A>G	ENSP00000455254.1:p.Lys143Arg
ENST00000569827.5:c.755A>G	ENSP00000454379.1:p.Lys252Arg
NM_000070.2:c.2423A>G	NP_000061.1:p.Lys808Arg
NM_024344.1:c.2405A>G	NP_077320.1:p.Lys802Arg
NM_173087.1:c.2147A>G	NP_775110.1:p.Lys716Arg
NM_173088.1:c.887A>G	NP_775111.1:p.Lys296Arg
NM_173089.1:c.428A>G	NP_775112.1:p.Lys143Arg
NM_173090.1:c.428A>G	NP_775113.1:p.Lys143Arg
NM_000070.3:c.2423A>G MANE Select	NP_000061.1:p.Lys808Arg
NM_024344.2:c.2405A>G	NP_077320.1:p.Lys802Arg
NM_173087.2:c.2147A>G	NP_775110.1:p.Lys716Arg
NM_173088.2:c.887A>G	NP_775111.1:p.Lys296Arg
NM_173089.2:c.428A>G	NP_775112.1:p.Lys143Arg
NM_173090.2:c.428A>G	NP_775113.1:p.Lys143Arg