Canonical Allele Identifier: CA358285

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 242490
• ClinVar RCV Id: RCV000370685 ; RCV001052904
• dbSNP Id: rs1801505
• gnomAD v4: 15-42384492-G-T
• MyVariant Identifiers: chr15:g.42676690G>T (hg19) ; chr15:g.42384492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42384492G>T , CM000677.2:g.42384492G>T	GRCh38
NC_000015.9:g.42676690G>T , CM000677.1:g.42676690G>T	GRCh37
NC_000015.8:g.40463982G>T	NCBI36
NG_008660.1:g.41390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.319G>T	ENSP00000183936.4:p.Glu107Ter
ENST00000357568.8:c.319G>T	ENSP00000350181.3:p.Glu107Ter
ENST00000397163.8:c.319G>T MANE Select	ENSP00000380349.3:p.Glu107Ter
ENST00000466369.5:n.550G>T
ENST00000483208.5:n.550G>T
ENST00000495723.1:n.550G>T
ENST00000549793.5:n.550G>T
ENST00000638141.2:n.334G>T
ENST00000673705.1:c.10G>T	ENSP00000501021.1:p.Glu4Ter
ENST00000318023.11:c.319G>T	ENSP00000326281.8:p.Glu107Ter
ENST00000349748.7:c.319G>T	ENSP00000183936.4:p.Glu107Ter
ENST00000357568.7:c.319G>T	ENSP00000350181.3:p.Glu107Ter
ENST00000397163.7:c.319G>T	ENSP00000380349.3:p.Glu107Ter
NM_000070.2:c.319G>T	NP_000061.1:p.Glu107Ter
NM_024344.1:c.319G>T	NP_077320.1:p.Glu107Ter
NM_173087.1:c.319G>T	NP_775110.1:p.Glu107Ter
NM_000070.3:c.319G>T MANE Select	NP_000061.1:p.Glu107Ter
NM_024344.2:c.319G>T	NP_077320.1:p.Glu107Ter
NM_173087.2:c.319G>T	NP_775110.1:p.Glu107Ter