Canonical Allele Identifier: CA1969334160
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332596C= , CM000673.2:g.47332596C= GRCh38
NC_000011.9:g.47354147C= , CM000673.1:g.47354147C= GRCh37
NC_000011.8:g.47310723C= NCBI36
NG_007667.1:g.25107G= , LRG_386:g.25107G=

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3597G= MANE Select ENSP00000442795.1:p.Met1199=
ENST00000256993.8:c.3597G= ENSP00000256993.5:p.Met1199=
ENST00000399249.6:c.3597G= ENSP00000382193.2:p.Met1199=
ENST00000545968.5:c.3597G= ENSP00000442795.1:p.Met1199=
NM_000256.3:c.3597G= , LRG_386t1:c.3597G= MANE Select NP_000247.2:p.Met1199=
XM_011520117.1:c.3579G= XP_011518419.1:p.Met1193=
XM_011520118.1:c.3516G= XP_011518420.1:p.Met1172=