Canonical Allele Identifier: CA381252336

Gene: CAPN1

Linked Data

• MyVariant Identifiers: chr11:g.64974255C>G (hg19) ; chr11:g.65206784C>G (hg38)

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