Canonical Allele Identifier: CA013831

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42702
• ClinVar RCV Id: RCV000223806 ; RCV000844680
• dbSNP Id: rs397516014
• gnomAD v2: 11-47354777-A-AC
• gnomAD v4: 11-47333226-A-AC
• MyVariant Identifiers: chr11:g.47354778dupC (hg19) ; chr11:g.47354777_47354778insC (hg19) ; chr11:g.47333227dupC (hg38) ; chr11:g.47333226_47333227insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333231dup , CM000673.2:g.47333231dup	GRCh38
NC_000011.9:g.47354782dup , CM000673.1:g.47354782dup	GRCh37
NC_000011.8:g.47311358dup	NCBI36
NG_007667.1:g.24476dup , LRG_386:g.24476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3297dup MANE Select	ENSP00000442795.1:p.Tyr1100ValfsTer?
ENST00000256993.8:c.3297dup	ENSP00000256993.5:p.Tyr1100ValfsTer?
ENST00000399249.6:c.3297dup	ENSP00000382193.2:p.Tyr1100ValfsTer?
ENST00000545968.5:c.3297dup	ENSP00000442795.1:p.Tyr1100ValfsTer?
NM_000256.3:c.3297dup , LRG_386t1:c.3297dup MANE Select	NP_000247.2:p.Tyr1100ValfsTer?
XM_011520117.1:c.3279dup	XP_011518419.1:p.Tyr1094ValfsTer?
XM_011520118.1:c.3216dup	XP_011518420.1:p.Tyr1073ValfsTer?