Canonical Allele Identifier: CA221688928

Gene: MYBPC3

Linked Data

• dbSNP Id: rs796790089

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337731dup , CM000673.2:g.47337731dup	GRCh38
NC_000011.9:g.47359282dup , CM000673.1:g.47359282dup	GRCh37
NC_000011.8:g.47315858dup	NCBI36
NG_007667.1:g.19972dup , LRG_386:g.19972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2372dup MANE Select	ENSP00000442795.1:p.Trp792ValfsTer?
ENST00000256993.8:c.2372dup	ENSP00000256993.5:p.Trp792ValfsTer?
ENST00000399249.6:c.2372dup	ENSP00000382193.2:p.Trp792ValfsTer?
ENST00000544791.1:c.2372dup	ENSP00000444259.1:p.Trp792ValfsTer16
ENST00000545968.5:c.2372dup	ENSP00000442795.1:p.Trp792ValfsTer?
NM_000256.3:c.2372dup , LRG_386t1:c.2372dup MANE Select	NP_000247.2:p.Trp792ValfsTer?
XM_011520117.1:c.2354dup	XP_011518419.1:p.Trp786ValfsTer?
XM_011520118.1:c.2291dup	XP_011518420.1:p.Trp765ValfsTer?