Canonical Allele Identifier: CA1969336918
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343206G= , CM000673.2:g.47343206G= GRCh38
NC_000011.9:g.47364757G= , CM000673.1:g.47364757G= GRCh37
NC_000011.8:g.47321333G= NCBI36
NG_007667.1:g.14497C= , LRG_386:g.14497C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1226+54C= MANE Select ENSP00000442795.1:n.1226+54C=
ENST00000256993.8:c.1224-58C= ENSP00000256993.5:n.1224-58C=
ENST00000399249.6:c.1226+54C= ENSP00000382193.2:n.1226+54C=
ENST00000544791.1:c.1226+54C= ENSP00000444259.1:n.1226+54C=
ENST00000545968.5:c.1226+54C= ENSP00000442795.1:n.1226+54C=
NM_000256.3:c.1226+54C= , LRG_386t1:c.1226+54C= MANE Select NP_000247.2:n.1226+54C=
XM_011520117.1:c.1208+54C= XP_011518419.1:n.1208+54C=
XM_011520118.1:c.1226+54C= XP_011518420.1:n.1226+54C=