Canonical Allele Identifier: CA913187726

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 920838
• ClinVar RCV Id: RCV001179887
• dbSNP Id: rs2095883988

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337743_47337745dup , CM000673.2:g.47337743_47337745dup	GRCh38
NC_000011.9:g.47359294_47359296dup , CM000673.1:g.47359294_47359296dup	GRCh37
NC_000011.8:g.47315870_47315872dup	NCBI36
NG_007667.1:g.19960_19962dup , LRG_386:g.19960_19962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2360_2362dup MANE Select	ENSP00000442795.1:p.Ser787_Cys788insSer
ENST00000256993.8:c.2360_2362dup	ENSP00000256993.5:p.Ser787_Cys788insSer
ENST00000399249.6:c.2360_2362dup	ENSP00000382193.2:p.Ser787_Cys788insSer
ENST00000544791.1:c.2360_2362dup	ENSP00000444259.1:p.Ser787_Cys788insSer
ENST00000545968.5:c.2360_2362dup	ENSP00000442795.1:p.Ser787_Cys788insSer
NM_000256.3:c.2360_2362dup , LRG_386t1:c.2360_2362dup MANE Select	NP_000247.2:p.Ser787_Cys788insSer
XM_011520117.1:c.2342_2344dup	XP_011518419.1:p.Ser781_Cys782insSer
XM_011520118.1:c.2279_2281dup	XP_011518420.1:p.Ser760_Cys761insSer