Canonical Allele Identifier: CA010559
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 180988
ClinVar RCV Id: RCV000172017 RCV001063574 RCV001179378
dbSNP Id: rs534282225
ExAC: 11:47372931 C / A
gnomAD v2: 11-47372931-C-A
gnomAD v3: 11-47351380-C-A
gnomAD v4: 11-47351380-C-A
MyVariant Identifiers: chr11:g.47372931C>A (hg19) chr11:g.47351380C>A (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351380C>A , CM000673.2:g.47351380C>A GRCh38
NC_000011.9:g.47372931C>A , CM000673.1:g.47372931C>A GRCh37
NC_000011.8:g.47329507C>A NCBI36
NG_007667.1:g.6323G>T , LRG_386:g.6323G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.151G>T MANE Select ENSP00000442795.1:p.Ala51Ser
ENST00000256993.8:c.151G>T ENSP00000256993.5:p.Ala51Ser
ENST00000399249.6:c.151G>T ENSP00000382193.2:p.Ala51Ser
ENST00000544791.1:c.151G>T ENSP00000444259.1:p.Ala51Ser
ENST00000545968.5:c.151G>T ENSP00000442795.1:p.Ala51Ser
NM_000256.3:c.151G>T , LRG_386t1:c.151G>T MANE Select NP_000247.2:p.Ala51Ser
XM_011520117.1:c.151G>T XP_011518419.1:p.Ala51Ser
XM_011520118.1:c.151G>T XP_011518420.1:p.Ala51Ser
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