Canonical Allele Identifier: CA676994064

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 689324
• ClinVar RCV Id: RCV000850019
• dbSNP Id: rs1248588905
• MyVariant Identifiers: chr11:g.47372960_47372961insG (hg19) ; chr11:g.47351409_47351410insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351410dup , CM000673.2:g.47351410dup	GRCh38
NC_000011.9:g.47372961dup , CM000673.1:g.47372961dup	GRCh37
NC_000011.8:g.47329537dup	NCBI36
NG_007667.1:g.6293dup , LRG_386:g.6293dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.121dup MANE Select	ENSP00000442795.1:p.Arg41ProfsTer8
ENST00000256993.8:c.121dup	ENSP00000256993.5:p.Arg41ProfsTer8
ENST00000399249.6:c.121dup	ENSP00000382193.2:p.Arg41ProfsTer8
ENST00000544791.1:c.121dup	ENSP00000444259.1:p.Arg41ProfsTer8
ENST00000545968.5:c.121dup	ENSP00000442795.1:p.Arg41ProfsTer8
NM_000256.3:c.121dup , LRG_386t1:c.121dup MANE Select	NP_000247.2:p.Arg41ProfsTer8
XM_011520117.1:c.121dup	XP_011518419.1:p.Arg41ProfsTer8
XM_011520118.1:c.121dup	XP_011518420.1:p.Arg41ProfsTer8