Canonical Allele Identifier: CA392002305

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42703518G>C (hg19) ; chr15:g.42411320G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411320G>C , CM000677.2:g.42411320G>C	GRCh38
NC_000015.9:g.42703518G>C , CM000677.1:g.42703518G>C	GRCh37
NC_000015.8:g.40490810G>C	NCBI36
NG_008660.1:g.68218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.419G>C	ENSP00000336840.4:p.Gly140Ala
ENST00000349748.8:c.2138G>C	ENSP00000183936.4:p.Gly713Ala
ENST00000357568.8:c.2396G>C	ENSP00000350181.3:p.Gly799Ala
ENST00000397163.8:c.2414G>C MANE Select	ENSP00000380349.3:p.Gly805Ala
ENST00000397204.9:c.419G>C	ENSP00000380387.4:p.Gly140Ala
ENST00000466222.7:n.785G>C
ENST00000466369.5:n.2905G>C
ENST00000495723.1:n.3285G>C
ENST00000549793.5:n.2627G>C
ENST00000562199.2:c.418G>C	ENSP00000501034.1:n.418G>C
ENST00000567817.6:c.203G>C	ENSP00000456514.2:p.Gly68Ala
ENST00000568153.2:c.280G>C
ENST00000569136.6:c.419G>C	ENSP00000455254.1:p.Gly140Ala
ENST00000638141.2:n.2153G>C
ENST00000673646.1:c.978G>C	ENSP00000501007.1:n.978G>C
ENST00000673684.1:n.396G>C
ENST00000673692.1:c.419G>C	ENSP00000501138.1:p.Gly140Ala
ENST00000673705.1:c.1243G>C	ENSP00000501021.1:n.1243G>C
ENST00000673743.1:c.317G>C	ENSP00000500989.1:p.Gly106Ala
ENST00000673750.1:c.419G>C	ENSP00000501173.1:p.Gly140Ala
ENST00000673771.1:c.419G>C	ENSP00000501023.1:p.Gly140Ala
ENST00000673774.1:n.1547G>C
ENST00000673839.1:c.419G>C	ENSP00000501188.1:p.Gly140Ala
ENST00000673851.1:c.419G>C	ENSP00000501142.1:p.Gly140Ala
ENST00000673854.1:n.5836G>C
ENST00000673886.1:c.419G>C	ENSP00000501155.1:p.Gly140Ala
ENST00000673890.1:c.419G>C	ENSP00000501293.1:p.Gly140Ala
ENST00000673928.1:c.419G>C	ENSP00000501099.1:p.Gly140Ala
ENST00000673936.1:c.419G>C	ENSP00000501189.1:p.Gly140Ala
ENST00000673939.1:c.*134G>C	ENSP00000501129.1:n.*134G>C
ENST00000673950.1:n.688G>C
ENST00000673978.1:c.557G>C	ENSP00000500976.1:p.Gly186Ala
ENST00000673987.1:c.*134G>C	ENSP00000501231.1:n.*134G>C
ENST00000674011.1:c.*208G>C	ENSP00000501171.1:n.*208G>C
ENST00000674018.1:c.419G>C	ENSP00000501271.1:p.Gly140Ala
ENST00000674027.1:n.565G>C
ENST00000674041.1:c.419G>C	ENSP00000500956.1:p.Gly140Ala
ENST00000674052.1:c.638G>C	ENSP00000501057.1:p.Gly213Ala
ENST00000674093.1:c.419G>C	ENSP00000501303.1:p.Gly140Ala
ENST00000674119.1:c.419G>C	ENSP00000501217.1:p.Gly140Ala
ENST00000674135.1:c.596G>C	ENSP00000501178.1:p.Gly199Ala
ENST00000674139.1:c.419G>C	ENSP00000501054.1:p.Gly140Ala
ENST00000674146.1:c.419G>C	ENSP00000501175.1:p.Gly140Ala
ENST00000674149.1:c.419G>C	ENSP00000501112.1:p.Gly140Ala
ENST00000318023.11:c.2270G>C	ENSP00000326281.8:p.Gly757Ala
ENST00000337571.8:c.419G>C	ENSP00000336840.4:p.Gly140Ala
ENST00000349748.7:c.2138G>C	ENSP00000183936.4:p.Gly713Ala
ENST00000356316.7:c.419G>C	ENSP00000348667.4:p.Gly140Ala
ENST00000357568.7:c.2396G>C	ENSP00000350181.3:p.Gly799Ala
ENST00000397163.7:c.2414G>C	ENSP00000380349.3:p.Gly805Ala
ENST00000397200.8:c.878G>C	ENSP00000380384.4:p.Gly293Ala
ENST00000397204.8:c.419G>C	ENSP00000380387.4:p.Gly140Ala
ENST00000466222.6:n.1337G>C
ENST00000561817.5:c.419G>C	ENSP00000456575.1:p.Gly140Ala
ENST00000564503.5:c.457G>C
ENST00000565274.5:c.592G>C	ENSP00000457759.1:n.592G>C
ENST00000567817.5:c.230G>C	ENSP00000456514.1:p.Gly77Ala
ENST00000568153.1:c.151G>C
ENST00000569136.5:c.419G>C	ENSP00000455254.1:p.Gly140Ala
ENST00000569827.5:c.746G>C	ENSP00000454379.1:p.Gly249Ala
NM_000070.2:c.2414G>C	NP_000061.1:p.Gly805Ala
NM_024344.1:c.2396G>C	NP_077320.1:p.Gly799Ala
NM_173087.1:c.2138G>C	NP_775110.1:p.Gly713Ala
NM_173088.1:c.878G>C	NP_775111.1:p.Gly293Ala
NM_173089.1:c.419G>C	NP_775112.1:p.Gly140Ala
NM_173090.1:c.419G>C	NP_775113.1:p.Gly140Ala
NM_000070.3:c.2414G>C MANE Select	NP_000061.1:p.Gly805Ala
NM_024344.2:c.2396G>C	NP_077320.1:p.Gly799Ala
NM_173087.2:c.2138G>C	NP_775110.1:p.Gly713Ala
NM_173088.2:c.878G>C	NP_775111.1:p.Gly293Ala
NM_173089.2:c.419G>C	NP_775112.1:p.Gly140Ala
NM_173090.2:c.419G>C	NP_775113.1:p.Gly140Ala