Canonical Allele Identifier: CA7511701

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1080675
• ClinVar RCV Id: RCV001396394
• dbSNP Id: rs778082413
• ExAC: 15:42702133 G / A
• gnomAD v2: 15-42702133-G-A
• gnomAD v4: 15-42409935-G-A
• MyVariant Identifiers: chr15:g.42702133G>A (hg19) ; chr15:g.42409935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409935G>A , CM000677.2:g.42409935G>A	GRCh38
NC_000015.9:g.42702133G>A , CM000677.1:g.42702133G>A	GRCh37
NC_000015.8:g.40489425G>A	NCBI36
NG_008660.1:g.66833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.60G>A	ENSP00000336840.4:p.Lys20=
ENST00000349748.8:c.1779G>A	ENSP00000183936.4:p.Lys593=
ENST00000357568.8:c.2037G>A	ENSP00000350181.3:p.Lys679=
ENST00000397163.8:c.2055G>A MANE Select	ENSP00000380349.3:p.Lys685=
ENST00000397204.9:c.60G>A	ENSP00000380387.4:p.Lys20=
ENST00000466222.7:n.320G>A
ENST00000466369.5:n.2546G>A
ENST00000495723.1:n.2926G>A
ENST00000549793.5:n.2268G>A
ENST00000562199.2:c.63G>A	ENSP00000501034.1:p.Lys21=
ENST00000569136.6:c.60G>A	ENSP00000455254.1:p.Lys20=
ENST00000638141.2:n.1794G>A
ENST00000673646.1:c.619G>A	ENSP00000501007.1:n.619G>A
ENST00000673687.1:n.132G>A
ENST00000673692.1:c.60G>A	ENSP00000501138.1:p.Lys20=
ENST00000673705.1:c.450G>A	ENSP00000501021.1:n.450G>A
ENST00000673743.1:c.-42-1G>A	ENSP00000500989.1:n.-42-1G>A
ENST00000673750.1:c.60G>A	ENSP00000501173.1:p.Lys20=
ENST00000673771.1:c.60G>A	ENSP00000501023.1:p.Lys20=
ENST00000673774.1:n.756G>A
ENST00000673839.1:c.60G>A	ENSP00000501188.1:p.Lys20=
ENST00000673851.1:c.60G>A	ENSP00000501142.1:p.Lys20=
ENST00000673854.1:n.5477G>A
ENST00000673886.1:c.60G>A	ENSP00000501155.1:p.Lys20=
ENST00000673890.1:c.60G>A	ENSP00000501293.1:p.Lys20=
ENST00000673928.1:c.60G>A	ENSP00000501099.1:p.Lys20=
ENST00000673936.1:c.60G>A	ENSP00000501189.1:p.Lys20=
ENST00000673939.1:c.60G>A	ENSP00000501129.1:p.Lys20=
ENST00000673950.1:n.329G>A
ENST00000673978.1:c.198G>A	ENSP00000500976.1:p.Lys66=
ENST00000673987.1:c.60G>A	ENSP00000501231.1:p.Lys20=
ENST00000674011.1:c.60G>A	ENSP00000501171.1:p.Lys20=
ENST00000674018.1:c.60G>A	ENSP00000501271.1:p.Lys20=
ENST00000674027.1:n.115G>A
ENST00000674041.1:c.60G>A	ENSP00000500956.1:p.Lys20=
ENST00000674052.1:c.279G>A	ENSP00000501057.1:p.Lys93=
ENST00000674093.1:c.60G>A	ENSP00000501303.1:p.Lys20=
ENST00000674119.1:c.60G>A	ENSP00000501217.1:p.Lys20=
ENST00000674130.1:n.273G>A
ENST00000674135.1:c.237G>A	ENSP00000501178.1:p.Lys79=
ENST00000674139.1:c.60G>A	ENSP00000501054.1:p.Lys20=
ENST00000674146.1:c.60G>A	ENSP00000501175.1:p.Lys20=
ENST00000674149.1:c.60G>A	ENSP00000501112.1:p.Lys20=
ENST00000318023.11:c.1911G>A	ENSP00000326281.8:p.Lys637=
ENST00000337571.8:c.60G>A	ENSP00000336840.4:p.Lys20=
ENST00000349748.7:c.1779G>A	ENSP00000183936.4:p.Lys593=
ENST00000356316.7:c.60G>A	ENSP00000348667.4:p.Lys20=
ENST00000357568.7:c.2037G>A	ENSP00000350181.3:p.Lys679=
ENST00000397163.7:c.2055G>A	ENSP00000380349.3:p.Lys685=
ENST00000397200.8:c.519G>A	ENSP00000380384.4:p.Lys173=
ENST00000397204.8:c.60G>A	ENSP00000380387.4:p.Lys20=
ENST00000466222.6:n.978G>A
ENST00000561817.5:c.60G>A	ENSP00000456575.1:p.Lys20=
ENST00000562199.1:n.63G>A
ENST00000564503.5:c.152G>A
ENST00000565274.5:c.267G>A	ENSP00000457759.1:p.Lys89=
ENST00000565559.5:c.237G>A	ENSP00000457878.1:p.Lys79=
ENST00000567071.5:c.535G>A
ENST00000569136.5:c.60G>A	ENSP00000455254.1:p.Lys20=
ENST00000569827.5:c.387G>A	ENSP00000454379.1:p.Lys129=
NM_000070.2:c.2055G>A	NP_000061.1:p.Lys685=
NM_024344.1:c.2037G>A	NP_077320.1:p.Lys679=
NM_173087.1:c.1779G>A	NP_775110.1:p.Lys593=
NM_173088.1:c.519G>A	NP_775111.1:p.Lys173=
NM_173089.1:c.60G>A	NP_775112.1:p.Lys20=
NM_173090.1:c.60G>A	NP_775113.1:p.Lys20=
NM_000070.3:c.2055G>A MANE Select	NP_000061.1:p.Lys685=
NM_024344.2:c.2037G>A	NP_077320.1:p.Lys679=
NM_173087.2:c.1779G>A	NP_775110.1:p.Lys593=
NM_173088.2:c.519G>A	NP_775111.1:p.Lys173=
NM_173089.2:c.60G>A	NP_775112.1:p.Lys20=
NM_173090.2:c.60G>A	NP_775113.1:p.Lys20=