Canonical Allele Identifier: CA10576095

Gene: CAPN1

Linked Data

• ClinVar Variation Id: 225765
• ClinVar RCV Id: RCV000211054
• dbSNP Id: rs756205995
• MyVariant Identifiers: chr11:g.64955466G>C (hg19) ; chr11:g.65187995G>C (hg38)
• PubMed: PMID:27153400

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65187995G>C , CM000673.2:g.65187995G>C	GRCh38
NC_000011.9:g.64955466G>C , CM000673.1:g.64955466G>C	GRCh37
NC_000011.8:g.64712042G>C	NCBI36
NG_052817.1:g.11781G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.884G>C MANE Select	ENSP00000279247.7:p.Arg295Pro
ENST00000279247.10:c.884G>C	ENSP00000279247.6:p.Arg295Pro
ENST00000524773.5:c.884G>C	ENSP00000434176.1:p.Arg295Pro
ENST00000526468.1:c.569G>C	ENSP00000433366.1:p.Arg190Pro
ENST00000526954.5:c.*109G>C	ENSP00000436002.1:n.*109G>C
ENST00000527323.5:c.884G>C	ENSP00000431984.1:p.Arg295Pro
ENST00000533079.5:n.55G>C
ENST00000533129.5:c.884G>C	ENSP00000431686.1:p.Arg295Pro
ENST00000533820.5:c.884G>C	ENSP00000435272.1:p.Arg295Pro
NM_001198868.1:c.884G>C	NP_001185797.1:p.Arg295Pro
NM_001198869.1:c.884G>C	NP_001185798.1:p.Arg295Pro
NM_005186.3:c.884G>C	NP_005177.2:p.Arg295Pro
NR_040008.1:n.996G>C
XM_006718698.1:c.884G>C	XP_006718761.1:p.Arg295Pro
XM_011545292.1:c.884G>C	XP_011543594.1:p.Arg295Pro
XM_006718698.2:c.884G>C	XP_006718761.1:p.Arg295Pro
NM_001198868.2:c.884G>C	NP_001185797.1:p.Arg295Pro
NM_005186.4:c.884G>C MANE Select	NP_005177.2:p.Arg295Pro
NR_040008.2:n.901G>C
NM_001198869.2:c.884G>C	NP_001185798.1:p.Arg295Pro