Canonical Allele Identifier: CA273429
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 177698
dbSNP Id: rs730880336

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346255_47346259dup , CM000673.2:g.47346255_47346259dup GRCh38
NC_000011.9:g.47367806_47367810dup , CM000673.1:g.47367806_47367810dup GRCh37
NC_000011.8:g.47324382_47324386dup NCBI36
NG_007667.1:g.11444_11448dup , LRG_386:g.11444_11448dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1038_1042dup MANE Select ENSP00000442795.1:p.Met348ThrfsTer4
ENST00000256993.8:c.1038_1042dup ENSP00000256993.5:p.Met348ThrfsTer4
ENST00000399249.6:c.1038_1042dup ENSP00000382193.2:p.Met348ThrfsTer4
ENST00000544791.1:c.1038_1042dup ENSP00000444259.1:p.Met348ThrfsTer4
ENST00000545968.5:c.1038_1042dup ENSP00000442795.1:p.Met348ThrfsTer4
NM_000256.3:c.1038_1042dup , LRG_386t1:c.1038_1042dup MANE Select NP_000247.2:p.Met348ThrfsTer4
XM_011520117.1:c.1020_1024dup XP_011518419.1:p.Met342ThrfsTer4
XM_011520118.1:c.1038_1042dup XP_011518420.1:p.Met348ThrfsTer4