Canonical Allele Identifier: CA1969337132
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343494G= , CM000673.2:g.47343494G= GRCh38
NC_000011.9:g.47365045G= , CM000673.1:g.47365045G= GRCh37
NC_000011.8:g.47321621G= NCBI36
NG_007667.1:g.14209C= , LRG_386:g.14209C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1221C= MANE Select ENSP00000442795.1:p.Gly407=
ENST00000256993.8:c.1221C= ENSP00000256993.5:p.Gly407=
ENST00000399249.6:c.1221C= ENSP00000382193.2:p.Gly407=
ENST00000544791.1:c.1221C= ENSP00000444259.1:p.Gly407=
ENST00000545968.5:c.1221C= ENSP00000442795.1:p.Gly407=
NM_000256.3:c.1221C= , LRG_386t1:c.1221C= MANE Select NP_000247.2:p.Gly407=
XM_011520117.1:c.1203C= XP_011518419.1:p.Gly401=
XM_011520118.1:c.1221C= XP_011518420.1:p.Gly407=