Canonical Allele Identifier: CA1969340265
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337540C= , CM000673.2:g.47337540C= GRCh38
NC_000011.9:g.47359091C= , CM000673.1:g.47359091C= GRCh37
NC_000011.8:g.47315667C= NCBI36
NG_007667.1:g.20163G= , LRG_386:g.20163G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2453G= MANE Select ENSP00000442795.1:p.Trp818=
ENST00000256993.8:c.2453G= ENSP00000256993.5:p.Trp818=
ENST00000399249.6:c.2453G= ENSP00000382193.2:p.Trp818=
ENST00000544791.1:c.2414-29G= ENSP00000444259.1:n.2414-29G=
ENST00000545968.5:c.2453G= ENSP00000442795.1:p.Trp818=
NM_000256.3:c.2453G= , LRG_386t1:c.2453G= MANE Select NP_000247.2:p.Trp818=
XM_011520117.1:c.2435G= XP_011518419.1:p.Trp812=
XM_011520118.1:c.2372G= XP_011518420.1:p.Trp791=