Canonical Allele Identifier: CA392001520

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 946817
• ClinVar RCV Id: RCV001217757
• dbSNP Id: rs1355979542
• gnomAD v2: 15-42702159-T-G
• gnomAD v3: 15-42409961-T-G
• gnomAD v4: 15-42409961-T-G
• MyVariant Identifiers: chr15:g.42702159T>G (hg19) ; chr15:g.42409961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409961T>G , CM000677.2:g.42409961T>G	GRCh38
NC_000015.9:g.42702159T>G , CM000677.1:g.42702159T>G	GRCh37
NC_000015.8:g.40489451T>G	NCBI36
NG_008660.1:g.66859T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.86T>G	ENSP00000336840.4:p.Leu29Arg
ENST00000349748.8:c.1805T>G	ENSP00000183936.4:p.Leu602Arg
ENST00000357568.8:c.2063T>G	ENSP00000350181.3:p.Leu688Arg
ENST00000397163.8:c.2081T>G MANE Select	ENSP00000380349.3:p.Leu694Arg
ENST00000397204.9:c.86T>G	ENSP00000380387.4:p.Leu29Arg
ENST00000466222.7:n.346T>G
ENST00000466369.5:n.2572T>G
ENST00000495723.1:n.2952T>G
ENST00000549793.5:n.2294T>G
ENST00000562199.2:c.89T>G	ENSP00000501034.1:p.Leu30Arg
ENST00000569136.6:c.86T>G	ENSP00000455254.1:p.Leu29Arg
ENST00000638141.2:n.1820T>G
ENST00000673646.1:c.645T>G	ENSP00000501007.1:n.645T>G
ENST00000673687.1:n.158T>G
ENST00000673692.1:c.86T>G	ENSP00000501138.1:p.Leu29Arg
ENST00000673705.1:c.476T>G	ENSP00000501021.1:n.476T>G
ENST00000673743.1:c.-17T>G	ENSP00000500989.1:n.-17T>G
ENST00000673750.1:c.86T>G	ENSP00000501173.1:p.Leu29Arg
ENST00000673771.1:c.86T>G	ENSP00000501023.1:p.Leu29Arg
ENST00000673774.1:n.782T>G
ENST00000673839.1:c.86T>G	ENSP00000501188.1:p.Leu29Arg
ENST00000673851.1:c.86T>G	ENSP00000501142.1:p.Leu29Arg
ENST00000673854.1:n.5503T>G
ENST00000673886.1:c.86T>G	ENSP00000501155.1:p.Leu29Arg
ENST00000673890.1:c.86T>G	ENSP00000501293.1:p.Leu29Arg
ENST00000673893.1:c.5T>G	ENSP00000500987.1:p.Leu2Arg
ENST00000673928.1:c.86T>G	ENSP00000501099.1:p.Leu29Arg
ENST00000673936.1:c.86T>G	ENSP00000501189.1:p.Leu29Arg
ENST00000673939.1:c.86T>G	ENSP00000501129.1:p.Leu29Arg
ENST00000673950.1:n.355T>G
ENST00000673978.1:c.224T>G	ENSP00000500976.1:p.Leu75Arg
ENST00000673987.1:c.86T>G	ENSP00000501231.1:p.Leu29Arg
ENST00000674011.1:c.86T>G	ENSP00000501171.1:p.Leu29Arg
ENST00000674018.1:c.86T>G	ENSP00000501271.1:p.Leu29Arg
ENST00000674027.1:n.141T>G
ENST00000674041.1:c.86T>G	ENSP00000500956.1:p.Leu29Arg
ENST00000674052.1:c.305T>G	ENSP00000501057.1:p.Leu102Arg
ENST00000674093.1:c.86T>G	ENSP00000501303.1:p.Leu29Arg
ENST00000674119.1:c.86T>G	ENSP00000501217.1:p.Leu29Arg
ENST00000674130.1:n.299T>G
ENST00000674135.1:c.263T>G	ENSP00000501178.1:p.Leu88Arg
ENST00000674139.1:c.86T>G	ENSP00000501054.1:p.Leu29Arg
ENST00000674146.1:c.86T>G	ENSP00000501175.1:p.Leu29Arg
ENST00000674149.1:c.86T>G	ENSP00000501112.1:p.Leu29Arg
ENST00000318023.11:c.1937T>G	ENSP00000326281.8:p.Leu646Arg
ENST00000337571.8:c.86T>G	ENSP00000336840.4:p.Leu29Arg
ENST00000349748.7:c.1805T>G	ENSP00000183936.4:p.Leu602Arg
ENST00000356316.7:c.86T>G	ENSP00000348667.4:p.Leu29Arg
ENST00000357568.7:c.2063T>G	ENSP00000350181.3:p.Leu688Arg
ENST00000397163.7:c.2081T>G	ENSP00000380349.3:p.Leu694Arg
ENST00000397200.8:c.545T>G	ENSP00000380384.4:p.Leu182Arg
ENST00000397204.8:c.86T>G	ENSP00000380387.4:p.Leu29Arg
ENST00000466222.6:n.1004T>G
ENST00000561817.5:c.86T>G	ENSP00000456575.1:p.Leu29Arg
ENST00000562199.1:n.89T>G
ENST00000564503.5:c.178T>G
ENST00000565274.5:c.293T>G	ENSP00000457759.1:p.Leu98Arg
ENST00000565559.5:c.263T>G	ENSP00000457878.1:p.Leu88Arg
ENST00000567071.5:c.561T>G
ENST00000569136.5:c.86T>G	ENSP00000455254.1:p.Leu29Arg
ENST00000569827.5:c.413T>G	ENSP00000454379.1:p.Leu138Arg
NM_000070.2:c.2081T>G	NP_000061.1:p.Leu694Arg
NM_024344.1:c.2063T>G	NP_077320.1:p.Leu688Arg
NM_173087.1:c.1805T>G	NP_775110.1:p.Leu602Arg
NM_173088.1:c.545T>G	NP_775111.1:p.Leu182Arg
NM_173089.1:c.86T>G	NP_775112.1:p.Leu29Arg
NM_173090.1:c.86T>G	NP_775113.1:p.Leu29Arg
NM_000070.3:c.2081T>G MANE Select	NP_000061.1:p.Leu694Arg
NM_024344.2:c.2063T>G	NP_077320.1:p.Leu688Arg
NM_173087.2:c.1805T>G	NP_775110.1:p.Leu602Arg
NM_173088.2:c.545T>G	NP_775111.1:p.Leu182Arg
NM_173089.2:c.86T>G	NP_775112.1:p.Leu29Arg
NM_173090.2:c.86T>G	NP_775113.1:p.Leu29Arg