Canonical Allele Identifier: CA489880775

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1155396
• ClinVar RCV Id: RCV001497712
• dbSNP Id: rs2053876506
• MyVariant Identifiers: chr15:g.42693936G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401738G>A , CM000677.2:g.42401738G>A	GRCh38
NC_000015.9:g.42693936G>A , CM000677.1:g.42693936G>A	GRCh37
NC_000015.8:g.40481228G>A	NCBI36
NG_008660.1:g.58636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1308G>A	ENSP00000183936.4:p.Leu436=
ENST00000357568.8:c.1452G>A	ENSP00000350181.3:p.Leu484=
ENST00000397163.8:c.1452G>A MANE Select	ENSP00000380349.3:p.Leu484=
ENST00000466369.5:n.1961G>A
ENST00000483208.5:n.1683G>A
ENST00000495723.1:n.1683G>A
ENST00000549793.5:n.1683G>A
ENST00000638141.2:n.1323G>A
ENST00000673705.1:c.309+2086G>A	ENSP00000501021.1:n.309+2086G>A
ENST00000318023.11:c.1308G>A	ENSP00000326281.8:p.Leu436=
ENST00000349748.7:c.1308G>A	ENSP00000183936.4:p.Leu436=
ENST00000357568.7:c.1452G>A	ENSP00000350181.3:p.Leu484=
ENST00000397163.7:c.1452G>A	ENSP00000380349.3:p.Leu484=
NM_000070.2:c.1452G>A	NP_000061.1:p.Leu484=
NM_024344.1:c.1452G>A	NP_077320.1:p.Leu484=
NM_173087.1:c.1308G>A	NP_775110.1:p.Leu436=
NM_000070.3:c.1452G>A MANE Select	NP_000061.1:p.Leu484=
NM_024344.2:c.1452G>A	NP_077320.1:p.Leu484=
NM_173087.2:c.1308G>A	NP_775110.1:p.Leu436=