Canonical Allele Identifier: CA012244
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181127
dbSNP Id: rs375675796

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337564C>A , CM000673.2:g.47337564C>A GRCh38
NC_000011.9:g.47359115C>A , CM000673.1:g.47359115C>A GRCh37
NC_000011.8:g.47315691C>A NCBI36
NG_007667.1:g.20139G>T , LRG_386:g.20139G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2429G>T MANE Select ENSP00000442795.1:p.Arg810Leu
ENST00000256993.8:c.2429G>T ENSP00000256993.5:p.Arg810Leu
ENST00000399249.6:c.2429G>T ENSP00000382193.2:p.Arg810Leu
ENST00000544791.1:c.2414-53G>T ENSP00000444259.1:p.=
ENST00000545968.5:c.2429G>T ENSP00000442795.1:p.Arg810Leu
NM_000256.3:c.2429G>T , LRG_386t1:c.2429G>T MANE Select NP_000247.2:p.Arg810Leu
XM_011520117.1:c.2411G>T XP_011518419.1:p.Arg804Leu
XM_011520118.1:c.2348G>T XP_011518420.1:p.Arg783Leu