Canonical Allele Identifier: CA012771

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42644
• ClinVar RCV Id: RCV000035512 ; RCV000158174 ; RCV000470636 ; RCV000656561 ; RCV000621287 ; RCV001176811 ; RCV001255329 ; RCV002280095 ; RCV002496530 ; RCV004549422
• dbSNP Id: rs376395543
• ExAC: 11:47373058 T / C
• gnomAD v2: 11-47373058-T-C
• gnomAD v3: 11-47351507-T-C
• gnomAD v4: 11-47351507-T-C
• MyVariant Identifiers: chr11:g.47373058T>C (hg19) ; chr11:g.47351507T>C (hg38)
• PubMed: PMID:15519027 ; PMID:18957093 ; PMID:21750094 ; PMID:22267749 ; PMID:23674513 ; PMID:24510615 ; PMID:25525159 ; PMID:25637381 ; PMID:27096365 ; PMID:27831900

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351507T>C , CM000673.2:g.47351507T>C	GRCh38
NC_000011.9:g.47373058T>C , CM000673.1:g.47373058T>C	GRCh37
NC_000011.8:g.47329634T>C	NCBI36
NG_007667.1:g.6196A>G , LRG_386:g.6196A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.26-2A>G MANE Select	ENSP00000442795.1:n.26-2A>G
ENST00000256993.8:c.26-2A>G	ENSP00000256993.5:n.26-2A>G
ENST00000399249.6:c.26-2A>G	ENSP00000382193.2:n.26-2A>G
ENST00000544791.1:c.26-2A>G	ENSP00000444259.1:n.26-2A>G
ENST00000545968.5:c.26-2A>G	ENSP00000442795.1:n.26-2A>G
NM_000256.3:c.26-2A>G , LRG_386t1:c.26-2A>G MANE Select	NP_000247.2:n.26-2A>G
XM_011520117.1:c.26-2A>G	XP_011518419.1:n.26-2A>G
XM_011520118.1:c.26-2A>G	XP_011518420.1:n.26-2A>G