Canonical Allele Identifier: CA012182

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181150
• ClinVar RCV Id: RCV000158477 ; RCV001041524
• dbSNP Id: rs730880714
• MyVariant Identifiers: chr11:g.47359272del (hg19) ; chr11:g.47337721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337721del , CM000673.2:g.47337721del	GRCh38
NC_000011.9:g.47359272del , CM000673.1:g.47359272del	GRCh37
NC_000011.8:g.47315848del	NCBI36
NG_007667.1:g.19982del , LRG_386:g.19982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2382del MANE Select	ENSP00000442795.1:p.Pro795LeufsTer27
ENST00000256993.8:c.2382del	ENSP00000256993.5:p.Pro795LeufsTer27
ENST00000399249.6:c.2382del	ENSP00000382193.2:p.Pro795LeufsTer27
ENST00000544791.1:c.2382del	ENSP00000444259.1:p.Pro795LeufsTer?
ENST00000545968.5:c.2382del	ENSP00000442795.1:p.Pro795LeufsTer27
NM_000256.3:c.2382del , LRG_386t1:c.2382del MANE Select	NP_000247.2:p.Pro795LeufsTer27
XM_011520117.1:c.2364del	XP_011518419.1:p.Pro789LeufsTer27
XM_011520118.1:c.2301del	XP_011518420.1:p.Pro768LeufsTer27