Canonical Allele Identifier: CA658797638

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 520308
• ClinVar RCV Id: RCV000619020 ; RCV001576301
• dbSNP Id: rs1555122462
• MyVariant Identifiers: chr11:g.47365159_47365163dup (hg19) ; chr11:g.47343608_47343612dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343608_47343612dup , CM000673.2:g.47343608_47343612dup	GRCh38
NC_000011.9:g.47365159_47365163dup , CM000673.1:g.47365159_47365163dup	GRCh37
NC_000011.8:g.47321735_47321739dup	NCBI36
NG_007667.1:g.14091_14095dup , LRG_386:g.14091_14095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1103_1107dup MANE Select	ENSP00000442795.1:p.Glu370SerfsTer8
ENST00000256993.8:c.1103_1107dup	ENSP00000256993.5:p.Glu370SerfsTer8
ENST00000399249.6:c.1103_1107dup	ENSP00000382193.2:p.Glu370SerfsTer8
ENST00000544791.1:c.1103_1107dup	ENSP00000444259.1:p.Glu370SerfsTer8
ENST00000545968.5:c.1103_1107dup	ENSP00000442795.1:p.Glu370SerfsTer8
NM_000256.3:c.1103_1107dup , LRG_386t1:c.1103_1107dup MANE Select	NP_000247.2:p.Glu370SerfsTer8
XM_011520117.1:c.1085_1089dup	XP_011518419.1:p.Glu364SerfsTer8
XM_011520118.1:c.1103_1107dup	XP_011518420.1:p.Glu370SerfsTer8