Canonical Allele Identifier: CA380310441
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773697
ClinVar RCV Id: RCV003532572

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332087G>C , CM000673.2:g.47332087G>C GRCh38
NC_000011.9:g.47353638G>C , CM000673.1:g.47353638G>C GRCh37
NC_000011.8:g.47310214G>C NCBI36
NG_007667.1:g.25616C>G , LRG_386:g.25616C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3799C>G MANE Select ENSP00000442795.1:p.Arg1267Gly
ENST00000256993.8:c.3799C>G ENSP00000256993.5:p.Arg1267Gly
ENST00000399249.6:c.3799C>G ENSP00000382193.2:p.Arg1267Gly
ENST00000545968.5:c.3799C>G ENSP00000442795.1:p.Arg1267Gly
NM_000256.3:c.3799C>G , LRG_386t1:c.3799C>G MANE Select NP_000247.2:p.Arg1267Gly
XM_011520117.1:c.3781C>G XP_011518419.1:p.Arg1261Gly
XM_011520118.1:c.3718C>G XP_011518420.1:p.Arg1240Gly