Gene: MYBPC3 ENSG00000134571

Description

myosin binding protein C, cardiac [Source:HGNC Symbol;Acc:7551]

Gene Synonyms

CMD1MM, CMH4, FHC, LVNC10, MYBP-C

Location

GRCh37:CM000673.1

About this gene

This gene has 4 transcripts (splice variants), 9 paralogues and is associated with 5 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000545968.1	MYBPC3-001	4217	1274aa	ENSP00000442795.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53621	B6D426 Q14896	NM_000256.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000399249.2	MYBPC3-202	4217	1274aa	ENSP00000382193.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A8MXZ9	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000256993.4	MYBPC3-201	4214	1273aa	ENSP00000256993.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D3DQR5 Q14896	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000544791.1	MYBPC3-004	2772	808aa	ENSP00000444259.1	Nonsense mediated decay		B6D426 F5GZR4	-	-

Summary