Canonical Allele Identifier: CA012226

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 180969
• ClinVar RCV Id: RCV000158156 ; RCV002453534
• dbSNP Id: rs730880566
• MyVariant Identifiers: chr11:g.47359130C>T (hg19) ; chr11:g.47337579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337579C>T , CM000673.2:g.47337579C>T	GRCh38
NC_000011.9:g.47359130C>T , CM000673.1:g.47359130C>T	GRCh37
NC_000011.8:g.47315706C>T	NCBI36
NG_007667.1:g.20124G>A , LRG_386:g.20124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2414G>A MANE Select	ENSP00000442795.1:p.Gly805Asp
ENST00000256993.8:c.2414G>A	ENSP00000256993.5:p.Gly805Asp
ENST00000399249.6:c.2414G>A	ENSP00000382193.2:p.Gly805Asp
ENST00000544791.1:c.2414-68G>A	ENSP00000444259.1:n.2414-68G>A
ENST00000545968.5:c.2414G>A	ENSP00000442795.1:p.Gly805Asp
NM_000256.3:c.2414G>A , LRG_386t1:c.2414G>A MANE Select	NP_000247.2:p.Gly805Asp
XM_011520117.1:c.2396G>A	XP_011518419.1:p.Gly799Asp
XM_011520118.1:c.2333G>A	XP_011518420.1:p.Gly778Asp