Canonical Allele Identifier: CA392000100
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2439727
ClinVar RCV Id: RCV003143978
dbSNP Id: rs2053910556

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402807A>G , CM000677.2:g.42402807A>G GRCh38
NC_000015.9:g.42695005A>G , CM000677.1:g.42695005A>G GRCh37
NC_000015.8:g.40482297A>G NCBI36
NG_008660.1:g.59705A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1406A>G ENSP00000183936.4:p.Lys469Arg
ENST00000357568.8:c.1550A>G ENSP00000350181.3:p.Lys517Arg
ENST00000397163.8:c.1550A>G MANE Select ENSP00000380349.3:p.Lys517Arg
ENST00000466369.5:n.2059A>G
ENST00000483208.5:n.2439A>G
ENST00000495723.1:n.2439A>G
ENST00000549793.5:n.1781A>G
ENST00000638141.2:n.1421A>G
ENST00000673646.1:c.14A>G ENSP00000501007.1:p.Lys5Arg
ENST00000673705.1:c.309+3155A>G ENSP00000501021.1:n.309+3155A>G
ENST00000673813.1:n.472A>G
ENST00000318023.11:c.1406A>G ENSP00000326281.8:p.Lys469Arg
ENST00000349748.7:c.1406A>G ENSP00000183936.4:p.Lys469Arg
ENST00000357568.7:c.1550A>G ENSP00000350181.3:p.Lys517Arg
ENST00000397163.7:c.1550A>G ENSP00000380349.3:p.Lys517Arg
ENST00000397200.8:c.14A>G ENSP00000380384.4:p.Lys5Arg
ENST00000567071.5:c.9A>G
ENST00000569827.5:c.14A>G ENSP00000454379.1:p.Lys5Arg
NM_000070.2:c.1550A>G NP_000061.1:p.Lys517Arg
NM_024344.1:c.1550A>G NP_077320.1:p.Lys517Arg
NM_173087.1:c.1406A>G NP_775110.1:p.Lys469Arg
NM_173088.1:c.14A>G NP_775111.1:p.Lys5Arg
NM_000070.3:c.1550A>G MANE Select NP_000061.1:p.Lys517Arg
NM_024344.2:c.1550A>G NP_077320.1:p.Lys517Arg
NM_173087.2:c.1406A>G NP_775110.1:p.Lys469Arg
NM_173088.2:c.14A>G NP_775111.1:p.Lys5Arg