Canonical Allele Identifier: CA2842057503

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342606dup , CM000673.2:g.47342606dup	GRCh38
NC_000011.9:g.47364157dup , CM000673.1:g.47364157dup	GRCh37
NC_000011.8:g.47320733dup	NCBI36
NG_007667.1:g.15098dup , LRG_386:g.15098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1597dup MANE Select	ENSP00000442795.1:p.Gln533ProfsTer5
ENST00000256993.8:c.1597dup	ENSP00000256993.5:p.Gln533ProfsTer5
ENST00000399249.6:c.1597dup	ENSP00000382193.2:p.Gln533ProfsTer5
ENST00000544791.1:c.1597dup	ENSP00000444259.1:p.Gln533ProfsTer5
ENST00000545968.5:c.1597dup	ENSP00000442795.1:p.Gln533ProfsTer5
NM_000256.3:c.1597dup , LRG_386t1:c.1597dup MANE Select	NP_000247.2:p.Gln533ProfsTer5
XM_011520117.1:c.1579dup	XP_011518419.1:p.Gln527ProfsTer5
XM_011520118.1:c.1597dup	XP_011518420.1:p.Gln533ProfsTer5