Canonical Allele Identifier: CA009667

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 177902
• ClinVar RCV Id: RCV000154555 ; RCV000405438 ; RCV000656915 ; RCV000777780 ; RCV000778105 ; RCV000845545 ; RCV001084890 ; RCV002336316
• dbSNP Id: rs573916965
• ExAC: 11:47367848 C / T
• gnomAD v2: 11-47367848-C-T
• gnomAD v3: 11-47346297-C-T
• gnomAD v4: 11-47346297-C-T
• COSMIC: COSM1981576 ; COSM3356195
• MyVariant Identifiers: chr11:g.47367848C>T (hg19) ; chr11:g.47346297C>T (hg38)
• PubMed: PMID:17560888 ; PMID:18533079 ; PMID:18929575 ; PMID:20045868 ; PMID:21511876 ; PMID:21939669 ; PMID:23283745 ; PMID:23711808 ; PMID:25132132 ; PMID:25856671 ; PMID:26090888 ; PMID:26163040 ; PMID:27841901 ; PMID:28193612 ; PMID:28202948 ; PMID:28679633

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346297C>T , CM000673.2:g.47346297C>T	GRCh38
NC_000011.9:g.47367848C>T , CM000673.1:g.47367848C>T	GRCh37
NC_000011.8:g.47324424C>T	NCBI36
NG_007667.1:g.11406G>A , LRG_386:g.11406G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1000G>A MANE Select	ENSP00000442795.1:p.Glu334Lys
ENST00000256993.8:c.1000G>A	ENSP00000256993.5:p.Glu334Lys
ENST00000399249.6:c.1000G>A	ENSP00000382193.2:p.Glu334Lys
ENST00000544791.1:c.1000G>A	ENSP00000444259.1:p.Glu334Lys
ENST00000545968.5:c.1000G>A	ENSP00000442795.1:p.Glu334Lys
NM_000256.3:c.1000G>A , LRG_386t1:c.1000G>A MANE Select	NP_000247.2:p.Glu334Lys
XM_011520117.1:c.982G>A	XP_011518419.1:p.Glu328Lys
XM_011520118.1:c.1000G>A	XP_011518420.1:p.Glu334Lys