Canonical Allele Identifier: CA489886011

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42703525C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411327C>T , CM000677.2:g.42411327C>T	GRCh38
NC_000015.9:g.42703525C>T , CM000677.1:g.42703525C>T	GRCh37
NC_000015.8:g.40490817C>T	NCBI36
NG_008660.1:g.68225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.426C>T	ENSP00000336840.4:p.Ile142=
ENST00000349748.8:c.2145C>T	ENSP00000183936.4:p.Ile715=
ENST00000357568.8:c.2403C>T	ENSP00000350181.3:p.Ile801=
ENST00000397163.8:c.2421C>T MANE Select	ENSP00000380349.3:p.Ile807=
ENST00000397204.9:c.426C>T	ENSP00000380387.4:p.Ile142=
ENST00000466222.7:n.792C>T
ENST00000466369.5:n.2912C>T
ENST00000495723.1:n.3292C>T
ENST00000549793.5:n.2634C>T
ENST00000562199.2:c.425C>T	ENSP00000501034.1:n.425C>T
ENST00000567817.6:c.210C>T	ENSP00000456514.2:p.Ile70=
ENST00000568153.2:c.287C>T
ENST00000569136.6:c.426C>T	ENSP00000455254.1:p.Ile142=
ENST00000638141.2:n.2160C>T
ENST00000673646.1:c.985C>T	ENSP00000501007.1:n.985C>T
ENST00000673684.1:n.403C>T
ENST00000673692.1:c.426C>T	ENSP00000501138.1:p.Ile142=
ENST00000673705.1:c.1250C>T	ENSP00000501021.1:n.1250C>T
ENST00000673743.1:c.324C>T	ENSP00000500989.1:p.Ile108=
ENST00000673750.1:c.426C>T	ENSP00000501173.1:p.Ile142=
ENST00000673771.1:c.426C>T	ENSP00000501023.1:p.Ile142=
ENST00000673774.1:n.1554C>T
ENST00000673839.1:c.426C>T	ENSP00000501188.1:p.Ile142=
ENST00000673851.1:c.426C>T	ENSP00000501142.1:p.Ile142=
ENST00000673854.1:n.5843C>T
ENST00000673886.1:c.426C>T	ENSP00000501155.1:p.Ile142=
ENST00000673890.1:c.426C>T	ENSP00000501293.1:p.Ile142=
ENST00000673928.1:c.426C>T	ENSP00000501099.1:p.Ile142=
ENST00000673936.1:c.426C>T	ENSP00000501189.1:p.Ile142=
ENST00000673939.1:c.*141C>T	ENSP00000501129.1:n.*141C>T
ENST00000673950.1:n.695C>T
ENST00000673978.1:c.564C>T	ENSP00000500976.1:p.Ile188=
ENST00000673987.1:c.*141C>T	ENSP00000501231.1:n.*141C>T
ENST00000674011.1:c.*215C>T	ENSP00000501171.1:n.*215C>T
ENST00000674018.1:c.426C>T	ENSP00000501271.1:p.Ile142=
ENST00000674027.1:n.572C>T
ENST00000674041.1:c.426C>T	ENSP00000500956.1:p.Ile142=
ENST00000674052.1:c.645C>T	ENSP00000501057.1:p.Ile215=
ENST00000674093.1:c.426C>T	ENSP00000501303.1:p.Ile142=
ENST00000674119.1:c.426C>T	ENSP00000501217.1:p.Ile142=
ENST00000674135.1:c.603C>T	ENSP00000501178.1:p.Ile201=
ENST00000674139.1:c.426C>T	ENSP00000501054.1:p.Ile142=
ENST00000674146.1:c.426C>T	ENSP00000501175.1:p.Ile142=
ENST00000674149.1:c.426C>T	ENSP00000501112.1:p.Ile142=
ENST00000318023.11:c.2277C>T	ENSP00000326281.8:p.Ile759=
ENST00000337571.8:c.426C>T	ENSP00000336840.4:p.Ile142=
ENST00000349748.7:c.2145C>T	ENSP00000183936.4:p.Ile715=
ENST00000356316.7:c.426C>T	ENSP00000348667.4:p.Ile142=
ENST00000357568.7:c.2403C>T	ENSP00000350181.3:p.Ile801=
ENST00000397163.7:c.2421C>T	ENSP00000380349.3:p.Ile807=
ENST00000397200.8:c.885C>T	ENSP00000380384.4:p.Ile295=
ENST00000397204.8:c.426C>T	ENSP00000380387.4:p.Ile142=
ENST00000466222.6:n.1344C>T
ENST00000561817.5:c.426C>T	ENSP00000456575.1:p.Ile142=
ENST00000564503.5:c.464C>T
ENST00000565274.5:c.599C>T	ENSP00000457759.1:n.599C>T
ENST00000567817.5:c.237C>T	ENSP00000456514.1:p.Ile79=
ENST00000568153.1:c.158C>T
ENST00000569136.5:c.426C>T	ENSP00000455254.1:p.Ile142=
ENST00000569827.5:c.753C>T	ENSP00000454379.1:p.Ile251=
NM_000070.2:c.2421C>T	NP_000061.1:p.Ile807=
NM_024344.1:c.2403C>T	NP_077320.1:p.Ile801=
NM_173087.1:c.2145C>T	NP_775110.1:p.Ile715=
NM_173088.1:c.885C>T	NP_775111.1:p.Ile295=
NM_173089.1:c.426C>T	NP_775112.1:p.Ile142=
NM_173090.1:c.426C>T	NP_775113.1:p.Ile142=
NM_000070.3:c.2421C>T MANE Select	NP_000061.1:p.Ile807=
NM_024344.2:c.2403C>T	NP_077320.1:p.Ile801=
NM_173087.2:c.2145C>T	NP_775110.1:p.Ile715=
NM_173088.2:c.885C>T	NP_775111.1:p.Ile295=
NM_173089.2:c.426C>T	NP_775112.1:p.Ile142=
NM_173090.2:c.426C>T	NP_775113.1:p.Ile142=