Canonical Allele Identifier: CA016121

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42806
• ClinVar RCV Id: RCV000158322 ; RCV000531021 ; RCV000609977 ; RCV000619499 ; RCV000853176 ; RCV003486553
• dbSNP Id: rs397516082
• gnomAD v2: 11-47367923-T-C
• gnomAD v4: 11-47346372-T-C
• MyVariant Identifiers: chr11:g.47367923T>C (hg19) ; chr11:g.47346372T>C (hg38)
• PubMed: PMID:9562578 ; PMID:12707239 ; PMID:18957093 ; PMID:20019025 ; PMID:22574137 ; PMID:24083979 ; PMID:25078086 ; PMID:25351510 ; PMID:26914223 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346372T>C , CM000673.2:g.47346372T>C	GRCh38
NC_000011.9:g.47367923T>C , CM000673.1:g.47367923T>C	GRCh37
NC_000011.8:g.47324499T>C	NCBI36
NG_007667.1:g.11331A>G , LRG_386:g.11331A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.927-2A>G MANE Select	ENSP00000442795.1:n.927-2A>G
ENST00000256993.8:c.927-2A>G	ENSP00000256993.5:n.927-2A>G
ENST00000399249.6:c.927-2A>G	ENSP00000382193.2:n.927-2A>G
ENST00000544791.1:c.927-2A>G	ENSP00000444259.1:n.927-2A>G
ENST00000545968.5:c.927-2A>G	ENSP00000442795.1:n.927-2A>G
NM_000256.3:c.927-2A>G , LRG_386t1:c.927-2A>G MANE Select	NP_000247.2:n.927-2A>G
XM_011520117.1:c.909-2A>G	XP_011518419.1:n.909-2A>G
XM_011520118.1:c.927-2A>G	XP_011518420.1:n.927-2A>G