Canonical Allele Identifier: CA380325129
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1412061
ClinVar RCV Id: RCV001923058
dbSNP Id: rs1595846192

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342654C>G , CM000673.2:g.47342654C>G GRCh38
NC_000011.9:g.47364205C>G , CM000673.1:g.47364205C>G GRCh37
NC_000011.8:g.47320781C>G NCBI36
NG_007667.1:g.15049G>C , LRG_386:g.15049G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1548G>C MANE Select ENSP00000442795.1:p.Glu516Asp
ENST00000256993.8:c.1548G>C ENSP00000256993.5:p.Glu516Asp
ENST00000399249.6:c.1548G>C ENSP00000382193.2:p.Glu516Asp
ENST00000544791.1:c.1548G>C ENSP00000444259.1:p.Glu516Asp
ENST00000545968.5:c.1548G>C ENSP00000442795.1:p.Glu516Asp
NM_000256.3:c.1548G>C , LRG_386t1:c.1548G>C MANE Select NP_000247.2:p.Glu516Asp
XM_011520117.1:c.1530G>C XP_011518419.1:p.Glu510Asp
XM_011520118.1:c.1548G>C XP_011518420.1:p.Glu516Asp