Canonical Allele Identifier: CA013802

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 164042
• ClinVar RCV Id: RCV000151070 ; RCV000158396 ; RCV000540054 ; RCV000587552 ; RCV000769309 ; RCV001263510
• dbSNP Id: rs727503172
• MyVariant Identifiers: chr11:g.47354787del (hg19) ; chr11:g.47333236del (hg38)
• PubMed: PMID:16679492 ; PMID:18400036 ; PMID:20474083 ; PMID:21750094 ; PMID:22907696 ; PMID:23891399 ; PMID:24510615

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333236del , CM000673.2:g.47333236del	GRCh38
NC_000011.9:g.47354787del , CM000673.1:g.47354787del	GRCh37
NC_000011.8:g.47311363del	NCBI36
NG_007667.1:g.24467del , LRG_386:g.24467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3288del MANE Select	ENSP00000442795.1:p.Glu1096AspfsTer?
ENST00000256993.8:c.3288del	ENSP00000256993.5:p.Glu1096AspfsTer?
ENST00000399249.6:c.3288del	ENSP00000382193.2:p.Glu1096AspfsTer?
ENST00000545968.5:c.3288del	ENSP00000442795.1:p.Glu1096AspfsTer?
NM_000256.3:c.3288del , LRG_386t1:c.3288del MANE Select	NP_000247.2:p.Glu1096AspfsTer?
XM_011520117.1:c.3270del	XP_011518419.1:p.Glu1090AspfsTer?
XM_011520118.1:c.3207del	XP_011518420.1:p.Glu1069AspfsTer?