Canonical Allele Identifier: CA1969333249
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339436A= , CM000673.2:g.47339436A= GRCh38
NC_000011.9:g.47360987A= , CM000673.1:g.47360987A= GRCh37
NC_000011.8:g.47317563A= NCBI36
NG_007667.1:g.18267T= , LRG_386:g.18267T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2068-32T= MANE Select ENSP00000442795.1:n.2068-32T=
ENST00000256993.8:c.2068-32T= ENSP00000256993.5:n.2068-32T=
ENST00000399249.6:c.2068-32T= ENSP00000382193.2:n.2068-32T=
ENST00000544791.1:c.2068-32T= ENSP00000444259.1:n.2068-32T=
ENST00000545968.5:c.2068-32T= ENSP00000442795.1:n.2068-32T=
NM_000256.3:c.2068-32T= , LRG_386t1:c.2068-32T= MANE Select NP_000247.2:n.2068-32T=
XM_011520117.1:c.2050-32T= XP_011518419.1:n.2050-32T=
XM_011520118.1:c.2067+215T= XP_011518420.1:n.2067+215T=
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