Canonical Allele Identifier: CA391999821
Gene: CAPN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401712G>C , CM000677.2:g.42401712G>C GRCh38
NC_000015.9:g.42693910G>C , CM000677.1:g.42693910G>C GRCh37
NC_000015.8:g.40481202G>C NCBI36
NG_008660.1:g.58610G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1282G>C ENSP00000183936.4:p.Val428Leu
ENST00000357568.8:c.1426G>C ENSP00000350181.3:p.Val476Leu
ENST00000397163.8:c.1426G>C MANE Select ENSP00000380349.3:p.Val476Leu
ENST00000466369.5:n.1935G>C
ENST00000483208.5:n.1657G>C
ENST00000495723.1:n.1657G>C
ENST00000549793.5:n.1657G>C
ENST00000638141.2:n.1297G>C
ENST00000673705.1:c.309+2060G>C ENSP00000501021.1:n.309+2060G>C
ENST00000318023.11:c.1282G>C ENSP00000326281.8:p.Val428Leu
ENST00000349748.7:c.1282G>C ENSP00000183936.4:p.Val428Leu
ENST00000357568.7:c.1426G>C ENSP00000350181.3:p.Val476Leu
ENST00000397163.7:c.1426G>C ENSP00000380349.3:p.Val476Leu
NM_000070.2:c.1426G>C NP_000061.1:p.Val476Leu
NM_024344.1:c.1426G>C NP_077320.1:p.Val476Leu
NM_173087.1:c.1282G>C NP_775110.1:p.Val428Leu
NM_000070.3:c.1426G>C MANE Select NP_000061.1:p.Val476Leu
NM_024344.2:c.1426G>C NP_077320.1:p.Val476Leu
NM_173087.2:c.1282G>C NP_775110.1:p.Val428Leu