Canonical Allele Identifier: CA1969333265
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332105C= , CM000673.2:g.47332105C= GRCh38
NC_000011.9:g.47353656C= , CM000673.1:g.47353656C= GRCh37
NC_000011.8:g.47310232C= NCBI36
NG_007667.1:g.25598G= , LRG_386:g.25598G=

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3781G= MANE Select ENSP00000442795.1:p.Glu1261=
ENST00000256993.8:c.3781G= ENSP00000256993.5:p.Glu1261=
ENST00000399249.6:c.3781G= ENSP00000382193.2:p.Glu1261=
ENST00000545968.5:c.3781G= ENSP00000442795.1:p.Glu1261=
NM_000256.3:c.3781G= , LRG_386t1:c.3781G= MANE Select NP_000247.2:p.Glu1261=
XM_011520117.1:c.3763G= XP_011518419.1:p.Glu1255=
XM_011520118.1:c.3700G= XP_011518420.1:p.Glu1234=