Canonical Allele Identifier: CA015670

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42784
• ClinVar RCV Id: RCV000035660 ; RCV000158303 ; RCV000232070 ; RCV000617271 ; RCV001170211 ; RCV001537862 ; RCV001251034 ; RCV002496537
• dbSNP Id: rs397516068
• gnomAD v4: 11-47348541-C-G
• MyVariant Identifiers: chr11:g.47370092C>G (hg19) ; chr11:g.47348541C>G (hg38)
• PubMed: PMID:15519027 ; PMID:20031602 ; PMID:20031618 ; PMID:20624503 ; PMID:22589294 ; PMID:23074333 ; PMID:23396983 ; PMID:23690394 ; PMID:23782526 ; PMID:24510615 ; PMID:25351510 ; PMID:26914223 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47348541C>G , CM000673.2:g.47348541C>G	GRCh38
NC_000011.9:g.47370092C>G , CM000673.1:g.47370092C>G	GRCh37
NC_000011.8:g.47326668C>G	NCBI36
NG_007667.1:g.9162G>C , LRG_386:g.9162G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.655G>C MANE Select	ENSP00000442795.1:p.Val219Leu
ENST00000256993.8:c.655G>C	ENSP00000256993.5:p.Val219Leu
ENST00000399249.6:c.655G>C	ENSP00000382193.2:p.Val219Leu
ENST00000544791.1:c.655G>C	ENSP00000444259.1:p.Val219Leu
ENST00000545968.5:c.655G>C	ENSP00000442795.1:p.Val219Leu
NM_000256.3:c.655G>C , LRG_386t1:c.655G>C MANE Select	NP_000247.2:p.Val219Leu
XM_011520117.1:c.655G>C	XP_011518419.1:p.Val219Leu
XM_011520118.1:c.655G>C	XP_011518420.1:p.Val219Leu