Canonical Allele Identifier: CA1139661949
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 925089
ClinVar RCV Id: RCV001186830
dbSNP Id: rs2095900669

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351308dup , CM000673.2:g.47351308dup GRCh38
NC_000011.9:g.47372859dup , CM000673.1:g.47372859dup GRCh37
NC_000011.8:g.47329435dup NCBI36
NG_007667.1:g.6395dup , LRG_386:g.6395dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.223dup MANE Select ENSP00000442795.1:p.Asp75GlyfsTer?
ENST00000256993.8:c.223dup ENSP00000256993.5:p.Asp75GlyfsTer?
ENST00000399249.6:c.223dup ENSP00000382193.2:p.Asp75GlyfsTer?
ENST00000544791.1:c.223dup ENSP00000444259.1:p.Asp75GlyfsTer?
ENST00000545968.5:c.223dup ENSP00000442795.1:p.Asp75GlyfsTer?
NM_000256.3:c.223dup , LRG_386t1:c.223dup MANE Select NP_000247.2:p.Asp75GlyfsTer?
XM_011520117.1:c.223dup XP_011518419.1:p.Asp75GlyfsTer?
XM_011520118.1:c.223dup XP_011518420.1:p.Asp75GlyfsTer?