Canonical Allele Identifier: CA1969335779
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333593T= , CM000673.2:g.47333593T= GRCh38
NC_000011.9:g.47355144T= , CM000673.1:g.47355144T= GRCh37
NC_000011.8:g.47311720T= NCBI36
NG_007667.1:g.24110A= , LRG_386:g.24110A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3154A= MANE Select ENSP00000442795.1:p.Met1052=
ENST00000256993.8:c.3154A= ENSP00000256993.5:p.Met1052=
ENST00000399249.6:c.3154A= ENSP00000382193.2:p.Met1052=
ENST00000545968.5:c.3154A= ENSP00000442795.1:p.Met1052=
NM_000256.3:c.3154A= , LRG_386t1:c.3154A= MANE Select NP_000247.2:p.Met1052=
XM_011520117.1:c.3136A= XP_011518419.1:p.Met1046=
XM_011520118.1:c.3073A= XP_011518420.1:p.Met1025=