Canonical Allele Identifier: CA380318212
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337480T>A , CM000673.2:g.47337480T>A GRCh38
NC_000011.9:g.47359031T>A , CM000673.1:g.47359031T>A GRCh37
NC_000011.8:g.47315607T>A NCBI36
NG_007667.1:g.20223A>T , LRG_386:g.20223A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2513A>T MANE Select ENSP00000442795.1:p.Glu838Val
ENST00000256993.8:c.2513A>T ENSP00000256993.5:p.Glu838Val
ENST00000399249.6:c.2513A>T ENSP00000382193.2:p.Glu838Val
ENST00000544791.1:c.*18A>T ENSP00000444259.1:n.*18A>T
ENST00000545968.5:c.2513A>T ENSP00000442795.1:p.Glu838Val
NM_000256.3:c.2513A>T , LRG_386t1:c.2513A>T MANE Select NP_000247.2:p.Glu838Val
XM_011520117.1:c.2495A>T XP_011518419.1:p.Glu832Val
XM_011520118.1:c.2432A>T XP_011518420.1:p.Glu811Val