Canonical Allele Identifier: CA1969339878
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337446G= , CM000673.2:g.47337446G= GRCh38
NC_000011.9:g.47358997G= , CM000673.1:g.47358997G= GRCh37
NC_000011.8:g.47315573G= NCBI36
NG_007667.1:g.20257C= , LRG_386:g.20257C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2547C= MANE Select ENSP00000442795.1:p.Val849=
ENST00000256993.8:c.2547C= ENSP00000256993.5:p.Val849=
ENST00000399249.6:c.2547C= ENSP00000382193.2:p.Val849=
ENST00000544791.1:c.*52C= ENSP00000444259.1:n.*52C=
ENST00000545968.5:c.2547C= ENSP00000442795.1:p.Val849=
NM_000256.3:c.2547C= , LRG_386t1:c.2547C= MANE Select NP_000247.2:p.Val849=
XM_011520117.1:c.2529C= XP_011518419.1:p.Val843=
XM_011520118.1:c.2466C= XP_011518420.1:p.Val822=