Canonical Allele Identifier: CA1969339874
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337444T= , CM000673.2:g.47337444T= GRCh38
NC_000011.9:g.47358995T= , CM000673.1:g.47358995T= GRCh37
NC_000011.8:g.47315571T= NCBI36
NG_007667.1:g.20259A= , LRG_386:g.20259A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2549A= MANE Select ENSP00000442795.1:p.Asn850=
ENST00000256993.8:c.2549A= ENSP00000256993.5:p.Asn850=
ENST00000399249.6:c.2549A= ENSP00000382193.2:p.Asn850=
ENST00000544791.1:c.*54A= ENSP00000444259.1:n.*54A=
ENST00000545968.5:c.2549A= ENSP00000442795.1:p.Asn850=
NM_000256.3:c.2549A= , LRG_386t1:c.2549A= MANE Select NP_000247.2:p.Asn850=
XM_011520117.1:c.2531A= XP_011518419.1:p.Asn844=
XM_011520118.1:c.2468A= XP_011518420.1:p.Asn823=