Canonical Allele Identifier: CA915948130
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 691987
ClinVar RCV Id: RCV000853239
dbSNP Id: rs1595841736
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333564del , CM000673.2:g.47333564del GRCh38
NC_000011.9:g.47355115del , CM000673.1:g.47355115del GRCh37
NC_000011.8:g.47311691del NCBI36
NG_007667.1:g.24140del , LRG_386:g.24140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3184del MANE Select ENSP00000442795.1:p.Val1062LeufsTer13
ENST00000256993.8:c.3184del ENSP00000256993.5:p.Val1062LeufsTer13
ENST00000399249.6:c.3184del ENSP00000382193.2:p.Val1062LeufsTer13
ENST00000545968.5:c.3184del ENSP00000442795.1:p.Val1062LeufsTer13
NM_000256.3:c.3184del , LRG_386t1:c.3184del MANE Select NP_000247.2:p.Val1062LeufsTer13
XM_011520117.1:c.3166del XP_011518419.1:p.Val1056LeufsTer13
XM_011520118.1:c.3103del XP_011518420.1:p.Val1035LeufsTer13
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