Canonical Allele Identifier: CA013001

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 37039
• ClinVar RCV Id: RCV000030699 ; RCV000158189 ; RCV000248559 ; RCV000471886 ; RCV001179578
• dbSNP Id: rs387907267
• ExAC: 11:47356671 G / A
• gnomAD v2: 11-47356671-G-A
• gnomAD v3: 11-47335120-G-A
• gnomAD v4: 11-47335120-G-A
• MyVariant Identifiers: chr11:g.47356671G>A (hg19) ; chr11:g.47335120G>A (hg38)
• PubMed: PMID:14563344 ; PMID:15519027 ; PMID:16679492 ; PMID:17612681 ; PMID:18403758 ; PMID:18409188 ; PMID:18761664 ; PMID:19356534 ; PMID:19858127 ; PMID:20505798 ; PMID:20624503 ; PMID:21839045 ; PMID:22569109 ; PMID:22574137 ; PMID:22857948 ; PMID:23233322 ; PMID:24111713 ; PMID:24510615 ; PMID:25335496 ; PMID:25351510 ; PMID:26026863 ; PMID:26936621 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47335120G>A , CM000673.2:g.47335120G>A	GRCh38
NC_000011.9:g.47356671G>A , CM000673.1:g.47356671G>A	GRCh37
NC_000011.8:g.47313247G>A	NCBI36
NG_007667.1:g.22583C>T , LRG_386:g.22583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2827C>T MANE Select	ENSP00000442795.1:p.Arg943Ter
ENST00000256993.8:c.2827C>T	ENSP00000256993.5:p.Arg943Ter
ENST00000399249.6:c.2827C>T	ENSP00000382193.2:p.Arg943Ter
ENST00000545968.5:c.2827C>T	ENSP00000442795.1:p.Arg943Ter
NM_000256.3:c.2827C>T , LRG_386t1:c.2827C>T MANE Select	NP_000247.2:p.Arg943Ter
XM_011520117.1:c.2809C>T	XP_011518419.1:p.Arg937Ter
XM_011520118.1:c.2746C>T	XP_011518420.1:p.Arg916Ter