Canonical Allele Identifier: CA474218165

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 513028
• ClinVar RCV Id: RCV000606328
• dbSNP Id: rs1555121890
• gnomAD v4: 11-47341154-G-T
• MyVariant Identifiers: chr11:g.47362705G>T (hg19) ; chr11:g.47341154G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341154G>T , CM000673.2:g.47341154G>T	GRCh38
NC_000011.9:g.47362705G>T , CM000673.1:g.47362705G>T	GRCh37
NC_000011.8:g.47319281G>T	NCBI36
NG_007667.1:g.16549C>A , LRG_386:g.16549C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1881C>A MANE Select	ENSP00000442795.1:p.Ala627=
ENST00000256993.8:c.1881C>A	ENSP00000256993.5:p.Ala627=
ENST00000399249.6:c.1881C>A	ENSP00000382193.2:p.Ala627=
ENST00000544791.1:c.1881C>A	ENSP00000444259.1:p.Ala627=
ENST00000545968.5:c.1881C>A	ENSP00000442795.1:p.Ala627=
NM_000256.3:c.1881C>A , LRG_386t1:c.1881C>A MANE Select	NP_000247.2:p.Ala627=
XM_011520117.1:c.1863C>A	XP_011518419.1:p.Ala621=
XM_011520118.1:c.1881C>A	XP_011518420.1:p.Ala627=