Canonical Allele Identifier: CA2580084197

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2023196
• ClinVar RCV Id: RCV002857768

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332588_47332597dup , CM000673.2:g.47332588_47332597dup	GRCh38
NC_000011.9:g.47354139_47354148dup , CM000673.1:g.47354139_47354148dup	GRCh37
NC_000011.8:g.47310715_47310724dup	NCBI36
NG_007667.1:g.25110_25119dup , LRG_386:g.25110_25119dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3600_3609dup MANE Select	ENSP00000442795.1:p.Val1204LeufsTer7
ENST00000256993.8:c.3600_3609dup	ENSP00000256993.5:p.Val1204LeufsTer7
ENST00000399249.6:c.3600_3609dup	ENSP00000382193.2:p.Val1204LeufsTer7
ENST00000545968.5:c.3600_3609dup	ENSP00000442795.1:p.Val1204LeufsTer7
NM_000256.3:c.3600_3609dup , LRG_386t1:c.3600_3609dup MANE Select	NP_000247.2:p.Val1204LeufsTer7
XM_011520117.1:c.3582_3591dup	XP_011518419.1:p.Val1198LeufsTer7
XM_011520118.1:c.3519_3528dup	XP_011518420.1:p.Val1177LeufsTer7