Canonical Allele Identifier: CA392002336

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2537589
• ClinVar RCV Id: RCV003256115
• MyVariant Identifiers: chr15:g.42703533A>C (hg19) ; chr15:g.42411335A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411335A>C , CM000677.2:g.42411335A>C	GRCh38
NC_000015.9:g.42703533A>C , CM000677.1:g.42703533A>C	GRCh37
NC_000015.8:g.40490825A>C	NCBI36
NG_008660.1:g.68233A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.434A>C	ENSP00000336840.4:p.Asn145Thr
ENST00000349748.8:c.2153A>C	ENSP00000183936.4:p.Asn718Thr
ENST00000357568.8:c.2411A>C	ENSP00000350181.3:p.Asn804Thr
ENST00000397163.8:c.2429A>C MANE Select	ENSP00000380349.3:p.Asn810Thr
ENST00000397204.9:c.434A>C	ENSP00000380387.4:p.Asn145Thr
ENST00000466222.7:n.800A>C
ENST00000466369.5:n.2920A>C
ENST00000495723.1:n.3300A>C
ENST00000549793.5:n.2642A>C
ENST00000562199.2:c.433A>C	ENSP00000501034.1:n.433A>C
ENST00000567817.6:c.218A>C	ENSP00000456514.2:p.Asn73Thr
ENST00000568153.2:c.295A>C
ENST00000569136.6:c.434A>C	ENSP00000455254.1:p.Asn145Thr
ENST00000638141.2:n.2168A>C
ENST00000673646.1:c.993A>C	ENSP00000501007.1:n.993A>C
ENST00000673684.1:n.411A>C
ENST00000673692.1:c.434A>C	ENSP00000501138.1:p.Asn145Thr
ENST00000673705.1:c.1258A>C	ENSP00000501021.1:n.1258A>C
ENST00000673743.1:c.332A>C	ENSP00000500989.1:p.Asn111Thr
ENST00000673750.1:c.434A>C	ENSP00000501173.1:p.Asn145Thr
ENST00000673771.1:c.434A>C	ENSP00000501023.1:p.Asn145Thr
ENST00000673774.1:n.1562A>C
ENST00000673839.1:c.434A>C
ENST00000673851.1:c.434A>C	ENSP00000501142.1:p.Asn145Thr
ENST00000673854.1:n.5851A>C
ENST00000673886.1:c.434A>C	ENSP00000501155.1:p.Asn145Thr
ENST00000673890.1:c.434A>C	ENSP00000501293.1:p.Asn145Thr
ENST00000673928.1:c.434A>C	ENSP00000501099.1:p.Asn145Thr
ENST00000673936.1:c.434A>C	ENSP00000501189.1:p.Asn145Thr
ENST00000673939.1:c.*149A>C	ENSP00000501129.1:n.*149A>C
ENST00000673950.1:n.703A>C
ENST00000673978.1:c.572A>C	ENSP00000500976.1:p.Asn191Thr
ENST00000673987.1:c.*149A>C	ENSP00000501231.1:n.*149A>C
ENST00000674011.1:c.*223A>C	ENSP00000501171.1:n.*223A>C
ENST00000674018.1:c.434A>C	ENSP00000501271.1:p.Asn145Thr
ENST00000674027.1:n.580A>C
ENST00000674041.1:c.434A>C	ENSP00000500956.1:p.Asn145Thr
ENST00000674052.1:c.653A>C	ENSP00000501057.1:p.Asn218Thr
ENST00000674093.1:c.434A>C	ENSP00000501303.1:p.Asn145Thr
ENST00000674119.1:c.434A>C	ENSP00000501217.1:p.Asn145Thr
ENST00000674139.1:c.434A>C	ENSP00000501054.1:p.Asn145Thr
ENST00000674146.1:c.434A>C	ENSP00000501175.1:p.Asn145Thr
ENST00000674149.1:c.434A>C	ENSP00000501112.1:p.Asn145Thr
ENST00000318023.11:c.2285A>C	ENSP00000326281.8:p.Asn762Thr
ENST00000337571.8:c.434A>C	ENSP00000336840.4:p.Asn145Thr
ENST00000349748.7:c.2153A>C	ENSP00000183936.4:p.Asn718Thr
ENST00000356316.7:c.434A>C	ENSP00000348667.4:p.Asn145Thr
ENST00000357568.7:c.2411A>C	ENSP00000350181.3:p.Asn804Thr
ENST00000397163.7:c.2429A>C	ENSP00000380349.3:p.Asn810Thr
ENST00000397200.8:c.893A>C	ENSP00000380384.4:p.Asn298Thr
ENST00000397204.8:c.434A>C	ENSP00000380387.4:p.Asn145Thr
ENST00000466222.6:n.1352A>C
ENST00000561817.5:c.434A>C	ENSP00000456575.1:p.Asn145Thr
ENST00000564503.5:c.472A>C
ENST00000565274.5:c.607A>C	ENSP00000457759.1:n.607A>C
ENST00000567817.5:c.245A>C	ENSP00000456514.1:p.Asn82Thr
ENST00000568153.1:c.166A>C
ENST00000569136.5:c.434A>C	ENSP00000455254.1:p.Asn145Thr
ENST00000569827.5:c.761A>C	ENSP00000454379.1:p.Asn254Thr
NM_000070.2:c.2429A>C	NP_000061.1:p.Asn810Thr
NM_024344.1:c.2411A>C	NP_077320.1:p.Asn804Thr
NM_173087.1:c.2153A>C	NP_775110.1:p.Asn718Thr
NM_173088.1:c.893A>C	NP_775111.1:p.Asn298Thr
NM_173089.1:c.434A>C	NP_775112.1:p.Asn145Thr
NM_173090.1:c.434A>C	NP_775113.1:p.Asn145Thr
NM_000070.3:c.2429A>C MANE Select	NP_000061.1:p.Asn810Thr
NM_024344.2:c.2411A>C	NP_077320.1:p.Asn804Thr
NM_173087.2:c.2153A>C	NP_775110.1:p.Asn718Thr
NM_173088.2:c.893A>C	NP_775111.1:p.Asn298Thr
NM_173089.2:c.434A>C	NP_775112.1:p.Asn145Thr
NM_173090.2:c.434A>C	NP_775113.1:p.Asn145Thr