Canonical Allele Identifier: CA380325291
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342735G>T , CM000673.2:g.47342735G>T GRCh38
NC_000011.9:g.47364286G>T , CM000673.1:g.47364286G>T GRCh37
NC_000011.8:g.47320862G>T NCBI36
NG_007667.1:g.14968C>A , LRG_386:g.14968C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1467C>A MANE Select ENSP00000442795.1:p.Asp489Glu
ENST00000256993.8:c.1467C>A ENSP00000256993.5:p.Asp489Glu
ENST00000399249.6:c.1467C>A ENSP00000382193.2:p.Asp489Glu
ENST00000544791.1:c.1467C>A ENSP00000444259.1:p.Asp489Glu
ENST00000545968.5:c.1467C>A ENSP00000442795.1:p.Asp489Glu
NM_000256.3:c.1467C>A , LRG_386t1:c.1467C>A MANE Select NP_000247.2:p.Asp489Glu
XM_011520117.1:c.1449C>A XP_011518419.1:p.Asp483Glu
XM_011520118.1:c.1467C>A XP_011518420.1:p.Asp489Glu