Canonical Allele Identifier: CA891842473

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 580434
• ClinVar RCV Id: RCV000703977
• dbSNP Id: rs1565625473
• MyVariant Identifiers: chr11:g.47359277dup (hg19) ; chr11:g.47337726dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337728dup , CM000673.2:g.47337728dup	GRCh38
NC_000011.9:g.47359279dup , CM000673.1:g.47359279dup	GRCh37
NC_000011.8:g.47315855dup	NCBI36
NG_007667.1:g.19977dup , LRG_386:g.19977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2377dup MANE Select	ENSP00000442795.1:p.Glu793GlyfsTer?
ENST00000256993.8:c.2377dup	ENSP00000256993.5:p.Glu793GlyfsTer?
ENST00000399249.6:c.2377dup	ENSP00000382193.2:p.Glu793GlyfsTer?
ENST00000544791.1:c.2377dup	ENSP00000444259.1:p.Glu793GlyfsTer15
ENST00000545968.5:c.2377dup	ENSP00000442795.1:p.Glu793GlyfsTer?
NM_000256.3:c.2377dup , LRG_386t1:c.2377dup MANE Select	NP_000247.2:p.Glu793GlyfsTer?
XM_011520117.1:c.2359dup	XP_011518419.1:p.Glu787GlyfsTer?
XM_011520118.1:c.2296dup	XP_011518420.1:p.Glu766GlyfsTer?