Canonical Allele Identifier: CA489885171

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2750809
• ClinVar RCV Id: RCV003516917
• MyVariant Identifiers: chr15:g.42695171G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402973G>C , CM000677.2:g.42402973G>C	GRCh38
NC_000015.9:g.42695171G>C , CM000677.1:g.42695171G>C	GRCh37
NC_000015.8:g.40482463G>C	NCBI36
NG_008660.1:g.59871G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1572G>C	ENSP00000183936.4:p.Arg524=
ENST00000357568.8:c.1716G>C	ENSP00000350181.3:p.Arg572=
ENST00000397163.8:c.1716G>C MANE Select	ENSP00000380349.3:p.Arg572=
ENST00000466369.5:n.2225G>C
ENST00000483208.5:n.2605G>C
ENST00000495723.1:n.2605G>C
ENST00000549793.5:n.1947G>C
ENST00000638141.2:n.1587G>C
ENST00000673646.1:c.180G>C	ENSP00000501007.1:p.Arg60=
ENST00000673705.1:c.309+3321G>C	ENSP00000501021.1:n.309+3321G>C
ENST00000673813.1:n.580+58G>C
ENST00000318023.11:c.1572G>C	ENSP00000326281.8:p.Arg524=
ENST00000349748.7:c.1572G>C	ENSP00000183936.4:p.Arg524=
ENST00000357568.7:c.1716G>C	ENSP00000350181.3:p.Arg572=
ENST00000397163.7:c.1716G>C	ENSP00000380349.3:p.Arg572=
ENST00000397200.8:c.180G>C	ENSP00000380384.4:p.Arg60=
ENST00000567071.5:c.175G>C
ENST00000569827.5:c.180G>C	ENSP00000454379.1:p.Arg60=
NM_000070.2:c.1716G>C	NP_000061.1:p.Arg572=
NM_024344.1:c.1716G>C	NP_077320.1:p.Arg572=
NM_173087.1:c.1572G>C	NP_775110.1:p.Arg524=
NM_173088.1:c.180G>C	NP_775111.1:p.Arg60=
NM_000070.3:c.1716G>C MANE Select	NP_000061.1:p.Arg572=
NM_024344.2:c.1716G>C	NP_077320.1:p.Arg572=
NM_173087.2:c.1572G>C	NP_775110.1:p.Arg524=
NM_173088.2:c.180G>C	NP_775111.1:p.Arg60=