Canonical Allele Identifier: CA5975381

Gene: MYBPC3

Linked Data

• dbSNP Id: rs769490852
• ExAC: 11:47365122 G / GGA
• gnomAD v2: 11-47365122-G-GGA
• MyVariant Identifiers: chr11:g.47365122_47365123insGA (hg19) ; chr11:g.47343571_47343572insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343572_47343573dup , CM000673.2:g.47343572_47343573dup	GRCh38
NC_000011.9:g.47365123_47365124dup , CM000673.1:g.47365123_47365124dup	GRCh37
NC_000011.8:g.47321699_47321700dup	NCBI36
NG_007667.1:g.14130_14131dup , LRG_386:g.14130_14131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1142_1143dup MANE Select	ENSP00000442795.1:p.Arg382SerfsTer3
ENST00000256993.8:c.1142_1143dup	ENSP00000256993.5:p.Arg382SerfsTer3
ENST00000399249.6:c.1142_1143dup	ENSP00000382193.2:p.Arg382SerfsTer3
ENST00000544791.1:c.1142_1143dup	ENSP00000444259.1:p.Arg382SerfsTer3
ENST00000545968.5:c.1142_1143dup	ENSP00000442795.1:p.Arg382SerfsTer3
NM_000256.3:c.1142_1143dup , LRG_386t1:c.1142_1143dup MANE Select	NP_000247.2:p.Arg382SerfsTer3
XM_011520117.1:c.1124_1125dup	XP_011518419.1:p.Arg376SerfsTer3
XM_011520118.1:c.1142_1143dup	XP_011518420.1:p.Arg382SerfsTer3