Canonical Allele Identifier: CA391999957

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1314596
• ClinVar RCV Id: RCV001773105
• dbSNP Id: rs1595837194
• gnomAD v4: 15-42401781-C-G
• MyVariant Identifiers: chr15:g.42693979C>G (hg19) ; chr15:g.42401781C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401781C>G , CM000677.2:g.42401781C>G	GRCh38
NC_000015.9:g.42693979C>G , CM000677.1:g.42693979C>G	GRCh37
NC_000015.8:g.40481271C>G	NCBI36
NG_008660.1:g.58679C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1351C>G	ENSP00000183936.4:p.Leu451Val
ENST00000357568.8:c.1495C>G	ENSP00000350181.3:p.Leu499Val
ENST00000397163.8:c.1495C>G MANE Select	ENSP00000380349.3:p.Leu499Val
ENST00000466369.5:n.2004C>G
ENST00000483208.5:n.1726C>G
ENST00000495723.1:n.1726C>G
ENST00000549793.5:n.1726C>G
ENST00000638141.2:n.1366C>G
ENST00000673705.1:c.309+2129C>G	ENSP00000501021.1:n.309+2129C>G
ENST00000318023.11:c.1351C>G	ENSP00000326281.8:p.Leu451Val
ENST00000349748.7:c.1351C>G	ENSP00000183936.4:p.Leu451Val
ENST00000357568.7:c.1495C>G	ENSP00000350181.3:p.Leu499Val
ENST00000397163.7:c.1495C>G	ENSP00000380349.3:p.Leu499Val
NM_000070.2:c.1495C>G	NP_000061.1:p.Leu499Val
NM_024344.1:c.1495C>G	NP_077320.1:p.Leu499Val
NM_173087.1:c.1351C>G	NP_775110.1:p.Leu451Val
NM_000070.3:c.1495C>G MANE Select	NP_000061.1:p.Leu499Val
NM_024344.2:c.1495C>G	NP_077320.1:p.Leu499Val
NM_173087.2:c.1351C>G	NP_775110.1:p.Leu451Val