Canonical Allele Identifier: CA1969334657
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341179T= , CM000673.2:g.47341179T= GRCh38
NC_000011.9:g.47362730T= , CM000673.1:g.47362730T= GRCh37
NC_000011.8:g.47319306T= NCBI36
NG_007667.1:g.16524A= , LRG_386:g.16524A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1856A= MANE Select ENSP00000442795.1:p.Glu619=
ENST00000256993.8:c.1856A= ENSP00000256993.5:p.Glu619=
ENST00000399249.6:c.1856A= ENSP00000382193.2:p.Glu619=
ENST00000544791.1:c.1856A= ENSP00000444259.1:p.Glu619=
ENST00000545968.5:c.1856A= ENSP00000442795.1:p.Glu619=
NM_000256.3:c.1856A= , LRG_386t1:c.1856A= MANE Select NP_000247.2:p.Glu619=
XM_011520117.1:c.1838A= XP_011518419.1:p.Glu613=
XM_011520118.1:c.1856A= XP_011518420.1:p.Glu619=