Canonical Allele Identifier: CA079267
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 853079
ClinVar RCV Id: RCV001057821
dbSNP Id: rs121909377

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333238C>T , CM000673.2:g.47333238C>T GRCh38
NC_000011.9:g.47354789C>T , CM000673.1:g.47354789C>T GRCh37
NC_000011.8:g.47311365C>T NCBI36
NG_007667.1:g.24465G>A , LRG_386:g.24465G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3286G>A MANE Select ENSP00000442795.1:p.Glu1096Lys
ENST00000256993.8:c.3286G>A ENSP00000256993.5:p.Glu1096Lys
ENST00000399249.6:c.3286G>A ENSP00000382193.2:p.Glu1096Lys
ENST00000545968.5:c.3286G>A ENSP00000442795.1:p.Glu1096Lys
NM_000256.3:c.3286G>A , LRG_386t1:c.3286G>A MANE Select NP_000247.2:p.Glu1096Lys
XM_011520117.1:c.3268G>A XP_011518419.1:p.Glu1090Lys
XM_011520118.1:c.3205G>A XP_011518420.1:p.Glu1069Lys