Canonical Allele Identifier: CA055418

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1460702
• ClinVar RCV Id: RCV001951716 ; RCV004044408
• dbSNP Id: rs779493486
• ExAC: 11:47371624 G / T
• gnomAD v2: 11-47371624-G-T
• gnomAD v3: 11-47350073-G-T
• gnomAD v4: 11-47350073-G-T
• MyVariant Identifiers: chr11:g.47371624G>T (hg19) ; chr11:g.47350073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47350073G>T , CM000673.2:g.47350073G>T	GRCh38
NC_000011.9:g.47371624G>T , CM000673.1:g.47371624G>T	GRCh37
NC_000011.8:g.47328200G>T	NCBI36
NG_007667.1:g.7630C>A , LRG_386:g.7630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.446C>A MANE Select	ENSP00000442795.1:p.Ala149Asp
ENST00000256993.8:c.446C>A	ENSP00000256993.5:p.Ala149Asp
ENST00000399249.6:c.446C>A	ENSP00000382193.2:p.Ala149Asp
ENST00000544791.1:c.446C>A	ENSP00000444259.1:p.Ala149Asp
ENST00000545968.5:c.446C>A	ENSP00000442795.1:p.Ala149Asp
NM_000256.3:c.446C>A , LRG_386t1:c.446C>A MANE Select	NP_000247.2:p.Ala149Asp
XM_011520117.1:c.446C>A	XP_011518419.1:p.Ala149Asp
XM_011520118.1:c.446C>A	XP_011518420.1:p.Ala149Asp