Canonical Allele Identifier: CA012558

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 177852
• ClinVar RCV Id: RCV000154489
• dbSNP Id: rs397515974
• MyVariant Identifiers: chr11:g.47359003G>T (hg19) ; chr11:g.47337452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337452G>T , CM000673.2:g.47337452G>T	GRCh38
NC_000011.9:g.47359003G>T , CM000673.1:g.47359003G>T	GRCh37
NC_000011.8:g.47315579G>T	NCBI36
NG_007667.1:g.20251C>A , LRG_386:g.20251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2541C>A MANE Select	ENSP00000442795.1:p.Tyr847Ter
ENST00000256993.8:c.2541C>A	ENSP00000256993.5:p.Tyr847Ter
ENST00000399249.6:c.2541C>A	ENSP00000382193.2:p.Tyr847Ter
ENST00000544791.1:c.*46C>A	ENSP00000444259.1:n.*46C>A
ENST00000545968.5:c.2541C>A	ENSP00000442795.1:p.Tyr847Ter
NM_000256.3:c.2541C>A , LRG_386t1:c.2541C>A MANE Select	NP_000247.2:p.Tyr847Ter
XM_011520117.1:c.2523C>A	XP_011518419.1:p.Tyr841Ter
XM_011520118.1:c.2460C>A	XP_011518420.1:p.Tyr820Ter