Canonical Allele Identifier: CA269844742

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1096376
• ClinVar RCV Id: RCV001417614
• dbSNP Id: rs143066571
• gnomAD v2: 15-42695159-A-G
• gnomAD v3: 15-42402961-A-G
• gnomAD v4: 15-42402961-A-G
• MyVariant Identifiers: chr15:g.42695159A>G (hg19) ; chr15:g.42402961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402961A>G , CM000677.2:g.42402961A>G	GRCh38
NC_000015.9:g.42695159A>G , CM000677.1:g.42695159A>G	GRCh37
NC_000015.8:g.40482451A>G	NCBI36
NG_008660.1:g.59859A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1560A>G	ENSP00000183936.4:p.Glu520=
ENST00000357568.8:c.1704A>G	ENSP00000350181.3:p.Glu568=
ENST00000397163.8:c.1704A>G MANE Select	ENSP00000380349.3:p.Glu568=
ENST00000466369.5:n.2213A>G
ENST00000483208.5:n.2593A>G
ENST00000495723.1:n.2593A>G
ENST00000549793.5:n.1935A>G
ENST00000638141.2:n.1575A>G
ENST00000673646.1:c.168A>G	ENSP00000501007.1:p.Glu56=
ENST00000673705.1:c.309+3309A>G	ENSP00000501021.1:n.309+3309A>G
ENST00000673813.1:n.580+46A>G
ENST00000318023.11:c.1560A>G	ENSP00000326281.8:p.Glu520=
ENST00000349748.7:c.1560A>G	ENSP00000183936.4:p.Glu520=
ENST00000357568.7:c.1704A>G	ENSP00000350181.3:p.Glu568=
ENST00000397163.7:c.1704A>G	ENSP00000380349.3:p.Glu568=
ENST00000397200.8:c.168A>G	ENSP00000380384.4:p.Glu56=
ENST00000567071.5:c.163A>G
ENST00000569827.5:c.168A>G	ENSP00000454379.1:p.Glu56=
NM_000070.2:c.1704A>G	NP_000061.1:p.Glu568=
NM_024344.1:c.1704A>G	NP_077320.1:p.Glu568=
NM_173087.1:c.1560A>G	NP_775110.1:p.Glu520=
NM_173088.1:c.168A>G	NP_775111.1:p.Glu56=
NM_000070.3:c.1704A>G MANE Select	NP_000061.1:p.Glu568=
NM_024344.2:c.1704A>G	NP_077320.1:p.Glu568=
NM_173087.2:c.1560A>G	NP_775110.1:p.Glu520=
NM_173088.2:c.168A>G	NP_775111.1:p.Glu56=