Canonical Allele Identifier: CA391998192

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1018726
• ClinVar RCV Id: RCV001318066
• dbSNP Id: rs1302248441
• MyVariant Identifiers: chr15:g.42681196G>A (hg19) ; chr15:g.42388998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388998G>A , CM000677.2:g.42388998G>A	GRCh38
NC_000015.9:g.42681196G>A , CM000677.1:g.42681196G>A	GRCh37
NC_000015.8:g.40468488G>A	NCBI36
NG_008660.1:g.45896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.703G>A	ENSP00000183936.4:p.Val235Met
ENST00000357568.8:c.703G>A	ENSP00000350181.3:p.Val235Met
ENST00000397163.8:c.703G>A MANE Select	ENSP00000380349.3:p.Val235Met
ENST00000466369.5:n.1212G>A
ENST00000483208.5:n.934G>A
ENST00000495723.1:n.934G>A
ENST00000549793.5:n.934G>A
ENST00000638141.2:n.718G>A
ENST00000673705.1:c.70+4446G>A	ENSP00000501021.1:n.70+4446G>A
ENST00000318023.11:c.703G>A	ENSP00000326281.8:p.Val235Met
ENST00000349748.7:c.703G>A	ENSP00000183936.4:p.Val235Met
ENST00000357568.7:c.703G>A	ENSP00000350181.3:p.Val235Met
ENST00000397163.7:c.703G>A	ENSP00000380349.3:p.Val235Met
NM_000070.2:c.703G>A	NP_000061.1:p.Val235Met
NM_024344.1:c.703G>A	NP_077320.1:p.Val235Met
NM_173087.1:c.703G>A	NP_775110.1:p.Val235Met
NM_000070.3:c.703G>A MANE Select	NP_000061.1:p.Val235Met
NM_024344.2:c.703G>A	NP_077320.1:p.Val235Met
NM_173087.2:c.703G>A	NP_775110.1:p.Val235Met