Canonical Allele Identifier: CA1969342647
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351311C= , CM000673.2:g.47351311C= GRCh38
NC_000011.9:g.47372862C= , CM000673.1:g.47372862C= GRCh37
NC_000011.8:g.47329438C= NCBI36
NG_007667.1:g.6392G= , LRG_386:g.6392G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.220G= MANE Select ENSP00000442795.1:p.Ala74=
ENST00000256993.8:c.220G= ENSP00000256993.5:p.Ala74=
ENST00000399249.6:c.220G= ENSP00000382193.2:p.Ala74=
ENST00000544791.1:c.220G= ENSP00000444259.1:p.Ala74=
ENST00000545968.5:c.220G= ENSP00000442795.1:p.Ala74=
NM_000256.3:c.220G= , LRG_386t1:c.220G= MANE Select NP_000247.2:p.Ala74=
XM_011520117.1:c.220G= XP_011518419.1:p.Ala74=
XM_011520118.1:c.220G= XP_011518420.1:p.Ala74=