Canonical Allele Identifier: CA381252405

Gene: CAPN1

Linked Data

• dbSNP Id: rs1184741447
• gnomAD v2: 11-64974262-A-T
• gnomAD v4: 11-65206791-A-T
• MyVariant Identifiers: chr11:g.64974262A>T (hg19) ; chr11:g.65206791A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65206791A>T , CM000673.2:g.65206791A>T	GRCh38
NC_000011.9:g.64974262A>T , CM000673.1:g.64974262A>T	GRCh37
NC_000011.8:g.64730838A>T	NCBI36
NG_052817.1:g.30577A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.1577A>T MANE Select	ENSP00000279247.7:p.Asp526Val
ENST00000279247.10:c.1577A>T	ENSP00000279247.6:p.Asp526Val
ENST00000524773.5:c.1577A>T	ENSP00000434176.1:p.Asp526Val
ENST00000525013.1:n.430A>T
ENST00000527323.5:c.1577A>T	ENSP00000431984.1:p.Asp526Val
ENST00000533129.5:c.1577A>T	ENSP00000431686.1:p.Asp526Val
ENST00000533820.5:c.1577A>T	ENSP00000435272.1:p.Asp526Val
NM_001198868.1:c.1577A>T	NP_001185797.1:p.Asp526Val
NM_001198869.1:c.1577A>T	NP_001185798.1:p.Asp526Val
NM_005186.3:c.1577A>T	NP_005177.2:p.Asp526Val
NR_040008.1:n.1689A>T
XM_006718698.1:c.1577A>T	XP_006718761.1:p.Asp526Val
XM_011545292.1:c.1577A>T	XP_011543594.1:p.Asp526Val
XM_006718698.2:c.1577A>T	XP_006718761.1:p.Asp526Val
NM_001198868.2:c.1577A>T	NP_001185797.1:p.Asp526Val
NM_005186.4:c.1577A>T MANE Select	NP_005177.2:p.Asp526Val
NR_040008.2:n.1594A>T
NM_001198869.2:c.1577A>T	NP_001185798.1:p.Asp526Val