Canonical Allele Identifier: CA1969335192
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341879A= , CM000673.2:g.47341879A= GRCh38
NC_000011.9:g.47363430A= , CM000673.1:g.47363430A= GRCh37
NC_000011.8:g.47320006A= NCBI36
NG_007667.1:g.15824T= , LRG_386:g.15824T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+112T= MANE Select ENSP00000442795.1:n.1790+112T=
ENST00000256993.8:c.1790+112T= ENSP00000256993.5:n.1790+112T=
ENST00000399249.6:c.1790+112T= ENSP00000382193.2:n.1790+112T=
ENST00000544791.1:c.1790+112T= ENSP00000444259.1:n.1790+112T=
ENST00000545968.5:c.1790+112T= ENSP00000442795.1:n.1790+112T=
NM_000256.3:c.1790+112T= , LRG_386t1:c.1790+112T= MANE Select NP_000247.2:n.1790+112T=
XM_011520117.1:c.1772+112T= XP_011518419.1:n.1772+112T=
XM_011520118.1:c.1790+112T= XP_011518420.1:n.1790+112T=