Canonical Allele Identifier: CA012366

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337503dup , CM000673.2:g.47337503dup	GRCh38
NC_000011.9:g.47359054dup , CM000673.1:g.47359054dup	GRCh37
NC_000011.8:g.47315630dup	NCBI36
NG_007667.1:g.20200dup , LRG_386:g.20200dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000256.3:c.2490dup , LRG_386t1:c.2490dup MANE Select	NP_000247.2:p.His831SerfsTer2
ENST00000545968.6:c.2490dup MANE Select	ENSP00000442795.1:p.His831SerfsTer2
ENST00000256993.8:c.2490dup	ENSP00000256993.5:p.His831SerfsTer2
ENST00000399249.6:c.2490dup	ENSP00000382193.2:p.His831SerfsTer2
ENST00000544791.1:c.2422dup	ENSP00000444259.1:p.Ser808PhefsTer7
ENST00000545968.5:c.2490dup	ENSP00000442795.1:p.His831SerfsTer2
XM_011520117.1:c.2472dup	XP_011518419.1:p.His825SerfsTer2
XM_011520118.1:c.2409dup	XP_011518420.1:p.His804SerfsTer2