Canonical Allele Identifier: CA381252336
Gene: CAPN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65206784C>G , CM000673.2:g.65206784C>G GRCh38
NC_000011.9:g.64974255C>G , CM000673.1:g.64974255C>G GRCh37
NC_000011.8:g.64730831C>G NCBI36
NG_052817.1:g.30570C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000279247.11:c.1570C>G MANE Select ENSP00000279247.7:p.Leu524Val
ENST00000279247.10:c.1570C>G ENSP00000279247.6:p.Leu524Val
ENST00000524773.5:c.1570C>G ENSP00000434176.1:p.Leu524Val
ENST00000525013.1:n.423C>G
ENST00000527323.5:c.1570C>G ENSP00000431984.1:p.Leu524Val
ENST00000533129.5:c.1570C>G ENSP00000431686.1:p.Leu524Val
ENST00000533820.5:c.1570C>G ENSP00000435272.1:p.Leu524Val
NM_001198868.1:c.1570C>G NP_001185797.1:p.Leu524Val
NM_001198869.1:c.1570C>G NP_001185798.1:p.Leu524Val
NM_005186.3:c.1570C>G NP_005177.2:p.Leu524Val
NR_040008.1:n.1682C>G
XM_006718698.1:c.1570C>G XP_006718761.1:p.Leu524Val
XM_011545292.1:c.1570C>G XP_011543594.1:p.Leu524Val
XM_006718698.2:c.1570C>G XP_006718761.1:p.Leu524Val
NM_001198868.2:c.1570C>G NP_001185797.1:p.Leu524Val
NM_005186.4:c.1570C>G MANE Select NP_005177.2:p.Leu524Val
NR_040008.2:n.1587C>G
NM_001198869.2:c.1570C>G NP_001185798.1:p.Leu524Val