Canonical Allele Identifier: CA012641

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42641
• ClinVar RCV Id: RCV000158367 ; RCV000473384 ; RCV003486549
• dbSNP Id: rs397515977
• MyVariant Identifiers: chr11:g.47358986del (hg19) ; chr11:g.47337435del (hg38)
• PubMed: PMID:15519027 ; PMID:24793961

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337436del , CM000673.2:g.47337436del	GRCh38
NC_000011.9:g.47358987del , CM000673.1:g.47358987del	GRCh37
NC_000011.8:g.47315563del	NCBI36
NG_007667.1:g.20268del , LRG_386:g.20268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2558del MANE Select	ENSP00000442795.1:p.Gly853AlafsTer26
ENST00000256993.8:c.2558del	ENSP00000256993.5:p.Gly853AlafsTer26
ENST00000399249.6:c.2558del	ENSP00000382193.2:p.Gly853AlafsTer26
ENST00000544791.1:c.*63del	ENSP00000444259.1:n.*63del
ENST00000545968.5:c.2558del	ENSP00000442795.1:p.Gly853AlafsTer26
NM_000256.3:c.2558del , LRG_386t1:c.2558del MANE Select	NP_000247.2:p.Gly853AlafsTer26
XM_011520117.1:c.2540del	XP_011518419.1:p.Gly847AlafsTer26
XM_011520118.1:c.2477del	XP_011518420.1:p.Gly826AlafsTer26