Canonical Allele Identifier: CA489885926

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42703149C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410951C>A , CM000677.2:g.42410951C>A	GRCh38
NC_000015.9:g.42703149C>A , CM000677.1:g.42703149C>A	GRCh37
NC_000015.8:g.40490441C>A	NCBI36
NG_008660.1:g.67849C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.336C>A	ENSP00000336840.4:p.Ile112=
ENST00000349748.8:c.2055C>A	ENSP00000183936.4:p.Ile685=
ENST00000357568.8:c.2313C>A	ENSP00000350181.3:p.Ile771=
ENST00000397163.8:c.2331C>A MANE Select	ENSP00000380349.3:p.Ile777=
ENST00000397204.9:c.336C>A	ENSP00000380387.4:p.Ile112=
ENST00000466222.7:n.751+25C>A
ENST00000466369.5:n.2822C>A
ENST00000495723.1:n.3202C>A
ENST00000549793.5:n.2544C>A
ENST00000562199.2:c.335C>A	ENSP00000501034.1:n.335C>A
ENST00000567817.6:c.120C>A	ENSP00000456514.2:p.Ile40=
ENST00000568153.2:c.197C>A
ENST00000569136.6:c.336C>A	ENSP00000455254.1:p.Ile112=
ENST00000638141.2:n.2070C>A
ENST00000673646.1:c.895C>A	ENSP00000501007.1:n.895C>A
ENST00000673684.1:n.313C>A
ENST00000673692.1:c.336C>A	ENSP00000501138.1:p.Ile112=
ENST00000673705.1:c.874C>A	ENSP00000501021.1:n.874C>A
ENST00000673743.1:c.234C>A	ENSP00000500989.1:p.Ile78=
ENST00000673750.1:c.336C>A	ENSP00000501173.1:p.Ile112=
ENST00000673771.1:c.336C>A	ENSP00000501023.1:p.Ile112=
ENST00000673774.1:n.1464C>A
ENST00000673839.1:c.336C>A	ENSP00000501188.1:p.Ile112=
ENST00000673851.1:c.336C>A	ENSP00000501142.1:p.Ile112=
ENST00000673854.1:n.5753C>A
ENST00000673886.1:c.336C>A	ENSP00000501155.1:p.Ile112=
ENST00000673890.1:c.336C>A	ENSP00000501293.1:p.Ile112=
ENST00000673928.1:c.336C>A	ENSP00000501099.1:p.Ile112=
ENST00000673936.1:c.336C>A	ENSP00000501189.1:p.Ile112=
ENST00000673939.1:c.*100+25C>A	ENSP00000501129.1:n.*100+25C>A
ENST00000673950.1:n.605C>A
ENST00000673978.1:c.474C>A	ENSP00000500976.1:p.Ile158=
ENST00000673987.1:c.*100+25C>A	ENSP00000501231.1:n.*100+25C>A
ENST00000674011.1:c.*125C>A	ENSP00000501171.1:n.*125C>A
ENST00000674018.1:c.336C>A	ENSP00000501271.1:p.Ile112=
ENST00000674027.1:n.482C>A
ENST00000674041.1:c.336C>A	ENSP00000500956.1:p.Ile112=
ENST00000674052.1:c.555C>A	ENSP00000501057.1:p.Ile185=
ENST00000674093.1:c.336C>A	ENSP00000501303.1:p.Ile112=
ENST00000674119.1:c.336C>A	ENSP00000501217.1:p.Ile112=
ENST00000674135.1:c.513C>A	ENSP00000501178.1:p.Ile171=
ENST00000674139.1:c.336C>A	ENSP00000501054.1:p.Ile112=
ENST00000674146.1:c.336C>A	ENSP00000501175.1:p.Ile112=
ENST00000674149.1:c.336C>A	ENSP00000501112.1:p.Ile112=
ENST00000318023.11:c.2187C>A	ENSP00000326281.8:p.Ile729=
ENST00000337571.8:c.336C>A	ENSP00000336840.4:p.Ile112=
ENST00000349748.7:c.2055C>A	ENSP00000183936.4:p.Ile685=
ENST00000356316.7:c.336C>A	ENSP00000348667.4:p.Ile112=
ENST00000357568.7:c.2313C>A	ENSP00000350181.3:p.Ile771=
ENST00000397163.7:c.2331C>A	ENSP00000380349.3:p.Ile777=
ENST00000397200.8:c.795C>A	ENSP00000380384.4:p.Ile265=
ENST00000397204.8:c.336C>A	ENSP00000380387.4:p.Ile112=
ENST00000466222.6:n.1254C>A
ENST00000561817.5:c.336C>A	ENSP00000456575.1:p.Ile112=
ENST00000562199.1:n.335C>A
ENST00000564503.5:c.374C>A
ENST00000565274.5:c.509C>A	ENSP00000457759.1:n.509C>A
ENST00000567817.5:c.147C>A	ENSP00000456514.1:p.Ile49=
ENST00000568153.1:c.68C>A
ENST00000569136.5:c.336C>A	ENSP00000455254.1:p.Ile112=
ENST00000569827.5:c.663C>A	ENSP00000454379.1:p.Ile221=
NM_000070.2:c.2331C>A	NP_000061.1:p.Ile777=
NM_024344.1:c.2313C>A	NP_077320.1:p.Ile771=
NM_173087.1:c.2055C>A	NP_775110.1:p.Ile685=
NM_173088.1:c.795C>A	NP_775111.1:p.Ile265=
NM_173089.1:c.336C>A	NP_775112.1:p.Ile112=
NM_173090.1:c.336C>A	NP_775113.1:p.Ile112=
NM_000070.3:c.2331C>A MANE Select	NP_000061.1:p.Ile777=
NM_024344.2:c.2313C>A	NP_077320.1:p.Ile771=
NM_173087.2:c.2055C>A	NP_775110.1:p.Ile685=
NM_173088.2:c.795C>A	NP_775111.1:p.Ile265=
NM_173089.2:c.336C>A	NP_775112.1:p.Ile112=
NM_173090.2:c.336C>A	NP_775113.1:p.Ile112=