Canonical Allele Identifier: CA679304187

Gene: CAPN1

Linked Data

• dbSNP Id: rs1281637373
• gnomAD v4: 11-65206777-C-T
• MyVariant Identifiers: chr11:g.64974248C>T (hg19) ; chr11:g.65206777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65206777C>T , CM000673.2:g.65206777C>T	GRCh38
NC_000011.9:g.64974248C>T , CM000673.1:g.64974248C>T	GRCh37
NC_000011.8:g.64730824C>T	NCBI36
NG_052817.1:g.30563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.1566-3C>T MANE Select	ENSP00000279247.7:n.1566-3C>T
ENST00000279247.10:c.1566-3C>T	ENSP00000279247.6:n.1566-3C>T
ENST00000524773.5:c.1566-3C>T	ENSP00000434176.1:n.1566-3C>T
ENST00000525013.1:n.419-3C>T
ENST00000527323.5:c.1566-3C>T	ENSP00000431984.1:n.1566-3C>T
ENST00000533129.5:c.1566-3C>T	ENSP00000431686.1:n.1566-3C>T
ENST00000533820.5:c.1566-3C>T	ENSP00000435272.1:n.1566-3C>T
NM_001198868.1:c.1566-3C>T	NP_001185797.1:n.1566-3C>T
NM_001198869.1:c.1566-3C>T	NP_001185798.1:n.1566-3C>T
NM_005186.3:c.1566-3C>T	NP_005177.2:n.1566-3C>T
NR_040008.1:n.1678-3C>T
XM_006718698.1:c.1566-3C>T	XP_006718761.1:n.1566-3C>T
XM_011545292.1:c.1566-3C>T	XP_011543594.1:n.1566-3C>T
XM_006718698.2:c.1566-3C>T	XP_006718761.1:n.1566-3C>T
NM_001198868.2:c.1566-3C>T	NP_001185797.1:n.1566-3C>T
NM_005186.4:c.1566-3C>T MANE Select	NP_005177.2:n.1566-3C>T
NR_040008.2:n.1583-3C>T
NM_001198869.2:c.1566-3C>T	NP_001185798.1:n.1566-3C>T