Canonical Allele Identifier: CA2172714534
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402894G= , CM000677.2:g.42402894G= GRCh38
NC_000015.9:g.42695092G= , CM000677.1:g.42695092G= GRCh37
NC_000015.8:g.40482384G= NCBI36
NG_008660.1:g.59792G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1493G= ENSP00000183936.4:p.Arg498=
ENST00000357568.8:c.1637G= ENSP00000350181.3:p.Arg546=
ENST00000397163.8:c.1637G= MANE Select ENSP00000380349.3:p.Arg546=
ENST00000466369.5:n.2146G=
ENST00000483208.5:n.2526G=
ENST00000495723.1:n.2526G=
ENST00000549793.5:n.1868G=
ENST00000638141.2:n.1508G=
ENST00000673646.1:c.101G= ENSP00000501007.1:p.Arg34=
ENST00000673705.1:c.309+3242G= ENSP00000501021.1:n.309+3242G=
ENST00000673813.1:n.559G=
ENST00000318023.11:c.1493G= ENSP00000326281.8:p.Arg498=
ENST00000349748.7:c.1493G= ENSP00000183936.4:p.Arg498=
ENST00000357568.7:c.1637G= ENSP00000350181.3:p.Arg546=
ENST00000397163.7:c.1637G= ENSP00000380349.3:p.Arg546=
ENST00000397200.8:c.101G= ENSP00000380384.4:p.Arg34=
ENST00000567071.5:c.96G=
ENST00000569827.5:c.101G= ENSP00000454379.1:p.Arg34=
NM_000070.2:c.1637G= NP_000061.1:p.Arg546=
NM_024344.1:c.1637G= NP_077320.1:p.Arg546=
NM_173087.1:c.1493G= NP_775110.1:p.Arg498=
NM_173088.1:c.101G= NP_775111.1:p.Arg34=
NM_000070.3:c.1637G= MANE Select NP_000061.1:p.Arg546=
NM_024344.2:c.1637G= NP_077320.1:p.Arg546=
NM_173087.2:c.1493G= NP_775110.1:p.Arg498=
NM_173088.2:c.101G= NP_775111.1:p.Arg34=