Canonical Allele Identifier: CA012285

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 164078
• ClinVar RCV Id: RCV000151096 ; RCV000485850 ; RCV000628977 ; RCV000763241 ; RCV003447505
• dbSNP Id: rs727503188
• gnomAD v2: 11-47359095-G-A
• gnomAD v4: 11-47337544-G-A
• MyVariant Identifiers: chr11:g.47359095G>A (hg19) ; chr11:g.47337544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337544G>A , CM000673.2:g.47337544G>A	GRCh38
NC_000011.9:g.47359095G>A , CM000673.1:g.47359095G>A	GRCh37
NC_000011.8:g.47315671G>A	NCBI36
NG_007667.1:g.20159C>T , LRG_386:g.20159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2449C>T MANE Select	ENSP00000442795.1:p.Arg817Trp
ENST00000256993.8:c.2449C>T	ENSP00000256993.5:p.Arg817Trp
ENST00000399249.6:c.2449C>T	ENSP00000382193.2:p.Arg817Trp
ENST00000544791.1:c.2414-33C>T	ENSP00000444259.1:n.2414-33C>T
ENST00000545968.5:c.2449C>T	ENSP00000442795.1:p.Arg817Trp
NM_000256.3:c.2449C>T , LRG_386t1:c.2449C>T MANE Select	NP_000247.2:p.Arg817Trp
XM_011520117.1:c.2431C>T	XP_011518419.1:p.Arg811Trp
XM_011520118.1:c.2368C>T	XP_011518420.1:p.Arg790Trp