Canonical Allele Identifier: CA913190287

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 626518
• ClinVar RCV Id: RCV000769350
• dbSNP Id: rs1565628520

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343587_47343615dup , CM000673.2:g.47343587_47343615dup	GRCh38
NC_000011.9:g.47365138_47365166dup , CM000673.1:g.47365138_47365166dup	GRCh37
NC_000011.8:g.47321714_47321742dup	NCBI36
NG_007667.1:g.14089_14117dup , LRG_386:g.14089_14117dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1101_1129dup MANE Select	ENSP00000442795.1:p.Lys377ArgfsTer9
ENST00000256993.8:c.1101_1129dup	ENSP00000256993.5:p.Lys377ArgfsTer9
ENST00000399249.6:c.1101_1129dup	ENSP00000382193.2:p.Lys377ArgfsTer9
ENST00000544791.1:c.1101_1129dup	ENSP00000444259.1:p.Lys377ArgfsTer9
ENST00000545968.5:c.1101_1129dup	ENSP00000442795.1:p.Lys377ArgfsTer9
NM_000256.3:c.1101_1129dup , LRG_386t1:c.1101_1129dup MANE Select	NP_000247.2:p.Lys377ArgfsTer9
XM_011520117.1:c.1083_1111dup	XP_011518419.1:p.Lys371ArgfsTer9
XM_011520118.1:c.1101_1129dup	XP_011518420.1:p.Lys377ArgfsTer9