Canonical Allele Identifier: CA391999767

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1473589
• ClinVar RCV Id: RCV001970769
• dbSNP Id: rs2141199495
• MyVariant Identifiers: chr15:g.42693887A>G (hg19) ; chr15:g.42401689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401689A>G , CM000677.2:g.42401689A>G	GRCh38
NC_000015.9:g.42693887A>G , CM000677.1:g.42693887A>G	GRCh37
NC_000015.8:g.40481179A>G	NCBI36
NG_008660.1:g.58587A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1259A>G	ENSP00000183936.4:p.Asp420Gly
ENST00000357568.8:c.1403A>G	ENSP00000350181.3:p.Asp468Gly
ENST00000397163.8:c.1403A>G MANE Select	ENSP00000380349.3:p.Asp468Gly
ENST00000466369.5:n.1912A>G
ENST00000483208.5:n.1634A>G
ENST00000495723.1:n.1634A>G
ENST00000549793.5:n.1634A>G
ENST00000638141.2:n.1274A>G
ENST00000673705.1:c.309+2037A>G	ENSP00000501021.1:n.309+2037A>G
ENST00000318023.11:c.1259A>G	ENSP00000326281.8:p.Asp420Gly
ENST00000349748.7:c.1259A>G	ENSP00000183936.4:p.Asp420Gly
ENST00000357568.7:c.1403A>G	ENSP00000350181.3:p.Asp468Gly
ENST00000397163.7:c.1403A>G	ENSP00000380349.3:p.Asp468Gly
NM_000070.2:c.1403A>G	NP_000061.1:p.Asp468Gly
NM_024344.1:c.1403A>G	NP_077320.1:p.Asp468Gly
NM_173087.1:c.1259A>G	NP_775110.1:p.Asp420Gly
NM_000070.3:c.1403A>G MANE Select	NP_000061.1:p.Asp468Gly
NM_024344.2:c.1403A>G	NP_077320.1:p.Asp468Gly
NM_173087.2:c.1259A>G	NP_775110.1:p.Asp420Gly