Canonical Allele Identifier: CA380319125
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 861266
ClinVar RCV Id: RCV001067753
dbSNP Id: rs1175711737

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337782G>A , CM000673.2:g.47337782G>A GRCh38
NC_000011.9:g.47359333G>A , CM000673.1:g.47359333G>A GRCh37
NC_000011.8:g.47315909G>A NCBI36
NG_007667.1:g.19921C>T , LRG_386:g.19921C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2321C>T MANE Select ENSP00000442795.1:p.Ala774Val
ENST00000256993.8:c.2321C>T ENSP00000256993.5:p.Ala774Val
ENST00000399249.6:c.2321C>T ENSP00000382193.2:p.Ala774Val
ENST00000544791.1:c.2321C>T ENSP00000444259.1:p.Ala774Val
ENST00000545968.5:c.2321C>T ENSP00000442795.1:p.Ala774Val
NM_000256.3:c.2321C>T , LRG_386t1:c.2321C>T MANE Select NP_000247.2:p.Ala774Val
XM_011520117.1:c.2303C>T XP_011518419.1:p.Ala768Val
XM_011520118.1:c.2240C>T XP_011518420.1:p.Ala747Val