Canonical Allele Identifier: CA012577

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 180975
• ClinVar RCV Id: RCV000158169 ; RCV001178352 ; RCV002426772 ; RCV002484970 ; RCV003748192
• dbSNP Id: rs730880569
• gnomAD v2: 11-47359001-G-C
• gnomAD v4: 11-47337450-G-C
• MyVariant Identifiers: chr11:g.47359001G>C (hg19) ; chr11:g.47337450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337450G>C , CM000673.2:g.47337450G>C	GRCh38
NC_000011.9:g.47359001G>C , CM000673.1:g.47359001G>C	GRCh37
NC_000011.8:g.47315577G>C	NCBI36
NG_007667.1:g.20253C>G , LRG_386:g.20253C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2543C>G MANE Select	ENSP00000442795.1:p.Ala848Gly
ENST00000256993.8:c.2543C>G	ENSP00000256993.5:p.Ala848Gly
ENST00000399249.6:c.2543C>G	ENSP00000382193.2:p.Ala848Gly
ENST00000544791.1:c.*48C>G	ENSP00000444259.1:n.*48C>G
ENST00000545968.5:c.2543C>G	ENSP00000442795.1:p.Ala848Gly
NM_000256.3:c.2543C>G , LRG_386t1:c.2543C>G MANE Select	NP_000247.2:p.Ala848Gly
XM_011520117.1:c.2525C>G	XP_011518419.1:p.Ala842Gly
XM_011520118.1:c.2462C>G	XP_011518420.1:p.Ala821Gly