Canonical Allele Identifier: CA489885156

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2730220
• ClinVar RCV Id: RCV003518627
• dbSNP Id: rs962606008
• gnomAD v4: 15-42402955-G-A
• MyVariant Identifiers: chr15:g.42695153G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402955G>A , CM000677.2:g.42402955G>A	GRCh38
NC_000015.9:g.42695153G>A , CM000677.1:g.42695153G>A	GRCh37
NC_000015.8:g.40482445G>A	NCBI36
NG_008660.1:g.59853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1554G>A	ENSP00000183936.4:p.Glu518=
ENST00000357568.8:c.1698G>A	ENSP00000350181.3:p.Glu566=
ENST00000397163.8:c.1698G>A MANE Select	ENSP00000380349.3:p.Glu566=
ENST00000466369.5:n.2207G>A
ENST00000483208.5:n.2587G>A
ENST00000495723.1:n.2587G>A
ENST00000549793.5:n.1929G>A
ENST00000638141.2:n.1569G>A
ENST00000673646.1:c.162G>A	ENSP00000501007.1:p.Glu54=
ENST00000673705.1:c.309+3303G>A	ENSP00000501021.1:n.309+3303G>A
ENST00000673813.1:n.580+40G>A
ENST00000318023.11:c.1554G>A	ENSP00000326281.8:p.Glu518=
ENST00000349748.7:c.1554G>A	ENSP00000183936.4:p.Glu518=
ENST00000357568.7:c.1698G>A	ENSP00000350181.3:p.Glu566=
ENST00000397163.7:c.1698G>A	ENSP00000380349.3:p.Glu566=
ENST00000397200.8:c.162G>A	ENSP00000380384.4:p.Glu54=
ENST00000567071.5:c.157G>A
ENST00000569827.5:c.162G>A	ENSP00000454379.1:p.Glu54=
NM_000070.2:c.1698G>A	NP_000061.1:p.Glu566=
NM_024344.1:c.1698G>A	NP_077320.1:p.Glu566=
NM_173087.1:c.1554G>A	NP_775110.1:p.Glu518=
NM_173088.1:c.162G>A	NP_775111.1:p.Glu54=
NM_000070.3:c.1698G>A MANE Select	NP_000061.1:p.Glu566=
NM_024344.2:c.1698G>A	NP_077320.1:p.Glu566=
NM_173087.2:c.1554G>A	NP_775110.1:p.Glu518=
NM_173088.2:c.162G>A	NP_775111.1:p.Glu54=