Canonical Allele Identifier: CA012008

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42611
• ClinVar RCV Id: RCV000158148 ; RCV000230791
• dbSNP Id: rs112738974
• gnomAD v4: 11-47338519-C-A
• MyVariant Identifiers: chr11:g.47360070C>A (hg19) ; chr11:g.47338519C>A (hg38)
• PubMed: PMID:9562578 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47338519C>A , CM000673.2:g.47338519C>A	GRCh38
NC_000011.9:g.47360070C>A , CM000673.1:g.47360070C>A	GRCh37
NC_000011.8:g.47316646C>A	NCBI36
NG_007667.1:g.19184G>T , LRG_386:g.19184G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2308+1G>T MANE Select	ENSP00000442795.1:n.2308+1G>T
ENST00000256993.8:c.2308+1G>T	ENSP00000256993.5:n.2308+1G>T
ENST00000399249.6:c.2308+1G>T	ENSP00000382193.2:n.2308+1G>T
ENST00000544791.1:c.2308+1G>T	ENSP00000444259.1:n.2308+1G>T
ENST00000545968.5:c.2308+1G>T	ENSP00000442795.1:n.2308+1G>T
NM_000256.3:c.2308+1G>T , LRG_386t1:c.2308+1G>T MANE Select	NP_000247.2:n.2308+1G>T
XM_011520117.1:c.2290+1G>T	XP_011518419.1:n.2290+1G>T
XM_011520118.1:c.2227+1G>T	XP_011518420.1:n.2227+1G>T