Canonical Allele Identifier: CA1139661949

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 925089
• ClinVar RCV Id: RCV001186830
• dbSNP Id: rs2095900669

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351308dup , CM000673.2:g.47351308dup	GRCh38
NC_000011.9:g.47372859dup , CM000673.1:g.47372859dup	GRCh37
NC_000011.8:g.47329435dup	NCBI36
NG_007667.1:g.6395dup , LRG_386:g.6395dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.223dup MANE Select	ENSP00000442795.1:p.Asp75GlyfsTer?
ENST00000256993.8:c.223dup	ENSP00000256993.5:p.Asp75GlyfsTer?
ENST00000399249.6:c.223dup	ENSP00000382193.2:p.Asp75GlyfsTer?
ENST00000544791.1:c.223dup	ENSP00000444259.1:p.Asp75GlyfsTer?
ENST00000545968.5:c.223dup	ENSP00000442795.1:p.Asp75GlyfsTer?
NM_000256.3:c.223dup , LRG_386t1:c.223dup MANE Select	NP_000247.2:p.Asp75GlyfsTer?
XM_011520117.1:c.223dup	XP_011518419.1:p.Asp75GlyfsTer?
XM_011520118.1:c.223dup	XP_011518420.1:p.Asp75GlyfsTer?