Canonical Allele Identifier: CA1969331610

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1455948
• ClinVar RCV Id: RCV001950900
• dbSNP Id: rs1057518030

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337773dup , CM000673.2:g.47337773dup	GRCh38
NC_000011.9:g.47359324dup , CM000673.1:g.47359324dup	GRCh37
NC_000011.8:g.47315900dup	NCBI36
NG_007667.1:g.19934dup , LRG_386:g.19934dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2334dup MANE Select	ENSP00000442795.1:p.Lys779GlnfsTer?
ENST00000256993.8:c.2334dup	ENSP00000256993.5:p.Lys779GlnfsTer?
ENST00000399249.6:c.2334dup	ENSP00000382193.2:p.Lys779GlnfsTer?
ENST00000544791.1:c.2334dup	ENSP00000444259.1:p.Lys779GlnfsTer29
ENST00000545968.5:c.2334dup	ENSP00000442795.1:p.Lys779GlnfsTer?
NM_000256.3:c.2334dup , LRG_386t1:c.2334dup MANE Select	NP_000247.2:p.Lys779GlnfsTer?
XM_011520117.1:c.2316dup	XP_011518419.1:p.Lys773GlnfsTer?
XM_011520118.1:c.2253dup	XP_011518420.1:p.Lys752GlnfsTer?