Canonical Allele Identifier: CA042951
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 219403
dbSNP Id: rs772073491

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343562C>T , CM000673.2:g.47343562C>T GRCh38
NC_000011.9:g.47365113C>T , CM000673.1:g.47365113C>T GRCh37
NC_000011.8:g.47321689C>T NCBI36
NG_007667.1:g.14141G>A , LRG_386:g.14141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1153G>A MANE Select ENSP00000442795.1:p.Val385Met
ENST00000256993.8:c.1153G>A ENSP00000256993.5:p.Val385Met
ENST00000399249.6:c.1153G>A ENSP00000382193.2:p.Val385Met
ENST00000544791.1:c.1153G>A ENSP00000444259.1:p.Val385Met
ENST00000545968.5:c.1153G>A ENSP00000442795.1:p.Val385Met
NM_000256.3:c.1153G>A , LRG_386t1:c.1153G>A MANE Select NP_000247.2:p.Val385Met
XM_011520117.1:c.1135G>A XP_011518419.1:p.Val379Met
XM_011520118.1:c.1153G>A XP_011518420.1:p.Val385Met