Canonical Allele Identifier: CA10604293
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282783
dbSNP Id: rs886042478

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42360050C>T , CM000677.2:g.42360050C>T GRCh38
NC_000015.9:g.42652248C>T , CM000677.1:g.42652248C>T GRCh37
NC_000015.8:g.40439540C>T NCBI36
NG_008660.1:g.16948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.245C>T ENSP00000183936.4:p.Pro82Leu
ENST00000357568.8:c.245C>T ENSP00000350181.3:p.Pro82Leu
ENST00000397163.8:c.245C>T MANE Select ENSP00000380349.3:p.Pro82Leu
ENST00000466369.5:n.540+5597C>T
ENST00000483208.5:n.540+5597C>T
ENST00000495723.1:n.540+5597C>T
ENST00000549793.5:n.540+5597C>T
ENST00000318023.11:c.245C>T ENSP00000326281.8:p.Pro82Leu
ENST00000349748.7:c.245C>T ENSP00000183936.4:p.Pro82Leu
ENST00000357568.7:c.245C>T ENSP00000350181.3:p.Pro82Leu
ENST00000397163.7:c.245C>T ENSP00000380349.3:p.Pro82Leu
NM_000070.2:c.245C>T NP_000061.1:p.Pro82Leu
NM_024344.1:c.245C>T NP_077320.1:p.Pro82Leu
NM_173087.1:c.245C>T NP_775110.1:p.Pro82Leu
NM_000070.3:c.245C>T MANE Select NP_000061.1:p.Pro82Leu
NM_024344.2:c.245C>T NP_077320.1:p.Pro82Leu
NM_173087.2:c.245C>T NP_775110.1:p.Pro82Leu