Canonical Allele Identifier: CA011009

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181089
• ClinVar RCV Id: RCV000158383
• dbSNP Id: rs730880662
• MyVariant Identifiers: chr11:g.47372910del (hg19) ; chr11:g.47351359del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351360del , CM000673.2:g.47351360del	GRCh38
NC_000011.9:g.47372911del , CM000673.1:g.47372911del	GRCh37
NC_000011.8:g.47329487del	NCBI36
NG_007667.1:g.6344del , LRG_386:g.6344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.172del MANE Select	ENSP00000442795.1:p.Ala58ProfsTer9
ENST00000256993.8:c.172del	ENSP00000256993.5:p.Ala58ProfsTer9
ENST00000399249.6:c.172del	ENSP00000382193.2:p.Ala58ProfsTer9
ENST00000544791.1:c.172del	ENSP00000444259.1:p.Ala58ProfsTer9
ENST00000545968.5:c.172del	ENSP00000442795.1:p.Ala58ProfsTer9
NM_000256.3:c.172del , LRG_386t1:c.172del MANE Select	NP_000247.2:p.Ala58ProfsTer9
XM_011520117.1:c.172del	XP_011518419.1:p.Ala58ProfsTer9
XM_011520118.1:c.172del	XP_011518420.1:p.Ala58ProfsTer9