Canonical Allele Identifier: CA2580084268

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1993574
• ClinVar RCV Id: RCV002801500

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342908_47342909dup , CM000673.2:g.47342908_47342909dup	GRCh38
NC_000011.9:g.47364459_47364460dup , CM000673.1:g.47364459_47364460dup	GRCh37
NC_000011.8:g.47321035_47321036dup	NCBI36
NG_007667.1:g.14794_14795dup , LRG_386:g.14794_14795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1378_1379dup MANE Select	ENSP00000442795.1:p.Leu460PhefsTer7
ENST00000256993.8:c.1378_1379dup	ENSP00000256993.5:p.Leu460PhefsTer7
ENST00000399249.6:c.1378_1379dup	ENSP00000382193.2:p.Leu460PhefsTer7
ENST00000544791.1:c.1378_1379dup	ENSP00000444259.1:p.Leu460PhefsTer7
ENST00000545968.5:c.1378_1379dup	ENSP00000442795.1:p.Leu460PhefsTer7
NM_000256.3:c.1378_1379dup , LRG_386t1:c.1378_1379dup MANE Select	NP_000247.2:p.Leu460PhefsTer7
XM_011520117.1:c.1360_1361dup	XP_011518419.1:p.Leu454PhefsTer7
XM_011520118.1:c.1378_1379dup	XP_011518420.1:p.Leu460PhefsTer7