Canonical Allele Identifier: CA012582

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181151
• ClinVar RCV Id: RCV000158479
• dbSNP Id: rs730880715
• MyVariant Identifiers: chr11:g.47359001del (hg19) ; chr11:g.47337450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337450del , CM000673.2:g.47337450del	GRCh38
NC_000011.9:g.47359001del , CM000673.1:g.47359001del	GRCh37
NC_000011.8:g.47315577del	NCBI36
NG_007667.1:g.20253del , LRG_386:g.20253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2543del MANE Select	ENSP00000442795.1:p.Ala848GlyfsTer?
ENST00000256993.8:c.2543del	ENSP00000256993.5:p.Ala848GlyfsTer?
ENST00000399249.6:c.2543del	ENSP00000382193.2:p.Ala848GlyfsTer?
ENST00000544791.1:c.*48del	ENSP00000444259.1:n.*48del
ENST00000545968.5:c.2543del	ENSP00000442795.1:p.Ala848GlyfsTer?
NM_000256.3:c.2543del , LRG_386t1:c.2543del MANE Select	NP_000247.2:p.Ala848GlyfsTer?
XM_011520117.1:c.2525del	XP_011518419.1:p.Ala842GlyfsTer?
XM_011520118.1:c.2462del	XP_011518420.1:p.Ala821GlyfsTer?