Canonical Allele Identifier: CA013001
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 37039
dbSNP Id: rs387907267

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335120G>A , CM000673.2:g.47335120G>A GRCh38
NC_000011.9:g.47356671G>A , CM000673.1:g.47356671G>A GRCh37
NC_000011.8:g.47313247G>A NCBI36
NG_007667.1:g.22583C>T , LRG_386:g.22583C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2827C>T MANE Select ENSP00000442795.1:p.Arg943Ter
ENST00000256993.8:c.2827C>T ENSP00000256993.5:p.Arg943Ter
ENST00000399249.6:c.2827C>T ENSP00000382193.2:p.Arg943Ter
ENST00000545968.5:c.2827C>T ENSP00000442795.1:p.Arg943Ter
NM_000256.3:c.2827C>T , LRG_386t1:c.2827C>T MANE Select NP_000247.2:p.Arg943Ter
XM_011520117.1:c.2809C>T XP_011518419.1:p.Arg937Ter
XM_011520118.1:c.2746C>T XP_011518420.1:p.Arg916Ter