Canonical Allele Identifier: CA011327

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42577
• ClinVar RCV Id: RCV000035444 ; RCV000148667 ; RCV000475481 ; RCV000726213 ; RCV001105317 ; RCV000764977 ; RCV001190873 ; RCV002408504 ; RCV001105316
• dbSNP Id: rs377225516
• ExAC: 11:47372898 T / G
• gnomAD v2: 11-47372898-T-G
• gnomAD v3: 11-47351347-T-G
• gnomAD v4: 11-47351347-T-G
• MyVariant Identifiers: chr11:g.47372898T>G (hg19) ; chr11:g.47351347T>G (hg38)
• PubMed: PMID:20624503 ; PMID:21310275 ; PMID:23299917 ; PMID:24055113 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351347T>G , CM000673.2:g.47351347T>G	GRCh38
NC_000011.9:g.47372898T>G , CM000673.1:g.47372898T>G	GRCh37
NC_000011.8:g.47329474T>G	NCBI36
NG_007667.1:g.6356A>C , LRG_386:g.6356A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.184A>C MANE Select	ENSP00000442795.1:p.Thr62Pro
ENST00000256993.8:c.184A>C	ENSP00000256993.5:p.Thr62Pro
ENST00000399249.6:c.184A>C	ENSP00000382193.2:p.Thr62Pro
ENST00000544791.1:c.184A>C	ENSP00000444259.1:p.Thr62Pro
ENST00000545968.5:c.184A>C	ENSP00000442795.1:p.Thr62Pro
NM_000256.3:c.184A>C , LRG_386t1:c.184A>C MANE Select	NP_000247.2:p.Thr62Pro
XM_011520117.1:c.184A>C	XP_011518419.1:p.Thr62Pro
XM_011520118.1:c.184A>C	XP_011518420.1:p.Thr62Pro