Canonical Allele Identifier: CA2573147067

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1371480
• ClinVar RCV Id: RCV001864558
• dbSNP Id: rs2142859193

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341149_47341205dup , CM000673.2:g.47341149_47341205dup	GRCh38
NC_000011.9:g.47362700_47362756dup , CM000673.1:g.47362700_47362756dup	GRCh37
NC_000011.8:g.47319276_47319332dup	NCBI36
NG_007667.1:g.16499_16555dup , LRG_386:g.16499_16555dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1831_1887dup MANE Select	ENSP00000442795.1:p.Leu629_His630insGluAlaAspTyrSerPheValProG...
ENST00000256993.8:c.1831_1887dup	ENSP00000256993.5:p.Leu629_His630insGluAlaAspTyrSerPheValProG...
ENST00000399249.6:c.1831_1887dup	ENSP00000382193.2:p.Leu629_His630insGluAlaAspTyrSerPheValProG...
ENST00000544791.1:c.1831_1887dup	ENSP00000444259.1:p.Leu629_His630insGluAlaAspTyrSerPheValProG...
ENST00000545968.5:c.1831_1887dup	ENSP00000442795.1:p.Leu629_His630insGluAlaAspTyrSerPheValProG...
NM_000256.3:c.1831_1887dup , LRG_386t1:c.1831_1887dup MANE Select	NP_000247.2:p.Leu629_His630insGluAlaAspTyrSerPheValProGluGlyP...
XM_011520117.1:c.1813_1869dup	XP_011518419.1:p.Leu623_His624insGluAlaAspTyrSerPheValProGluG...
XM_011520118.1:c.1831_1887dup	XP_011518420.1:p.Leu629_His630insGluAlaAspTyrSerPheValProGluG...