Canonical Allele Identifier: CA1969334432
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332681T= , CM000673.2:g.47332681T= GRCh38
NC_000011.9:g.47354232T= , CM000673.1:g.47354232T= GRCh37
NC_000011.8:g.47310808T= NCBI36
NG_007667.1:g.25022A= , LRG_386:g.25022A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3512A= MANE Select ENSP00000442795.1:p.Asn1171=
ENST00000256993.8:c.3512A= ENSP00000256993.5:p.Asn1171=
ENST00000399249.6:c.3512A= ENSP00000382193.2:p.Asn1171=
ENST00000545968.5:c.3512A= ENSP00000442795.1:p.Asn1171=
NM_000256.3:c.3512A= , LRG_386t1:c.3512A= MANE Select NP_000247.2:p.Asn1171=
XM_011520117.1:c.3494A= XP_011518419.1:p.Asn1165=
XM_011520118.1:c.3431A= XP_011518420.1:p.Asn1144=