Canonical Allele Identifier: CA1969342526
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351118A= , CM000673.2:g.47351118A= GRCh38
NC_000011.9:g.47372669A= , CM000673.1:g.47372669A= GRCh37
NC_000011.8:g.47329245A= NCBI36
NG_007667.1:g.6585T= , LRG_386:g.6585T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.292+121T= MANE Select ENSP00000442795.1:n.292+121T=
ENST00000256993.8:c.292+121T= ENSP00000256993.5:n.292+121T=
ENST00000399249.6:c.292+121T= ENSP00000382193.2:n.292+121T=
ENST00000544791.1:c.292+121T= ENSP00000444259.1:n.292+121T=
ENST00000545968.5:c.292+121T= ENSP00000442795.1:n.292+121T=
NM_000256.3:c.292+121T= , LRG_386t1:c.292+121T= MANE Select NP_000247.2:n.292+121T=
XM_011520117.1:c.292+121T= XP_011518419.1:n.292+121T=
XM_011520118.1:c.292+121T= XP_011518420.1:n.292+121T=
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