Canonical Allele Identifier: CA296492

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181148
• ClinVar RCV Id: RCV000223877 ; RCV000509093
• dbSNP Id: rs730880712
• gnomAD v4: 11-47342621-C-CAGTG
• MyVariant Identifiers: chr11:g.47364173_47364176dupAGTG (hg19) ; chr11:g.47364172_47364173insAGTG (hg19) ; chr11:g.47342622_47342625dupAGTG (hg38) ; chr11:g.47342621_47342622insAGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342622_47342625dup , CM000673.2:g.47342622_47342625dup	GRCh38
NC_000011.9:g.47364173_47364176dup , CM000673.1:g.47364173_47364176dup	GRCh37
NC_000011.8:g.47320749_47320752dup	NCBI36
NG_007667.1:g.15078_15081dup , LRG_386:g.15078_15081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1577_1580dup MANE Select	ENSP00000442795.1:p.Cys528ThrfsTer4
ENST00000256993.8:c.1577_1580dup	ENSP00000256993.5:p.Cys528ThrfsTer4
ENST00000399249.6:c.1577_1580dup	ENSP00000382193.2:p.Cys528ThrfsTer4
ENST00000544791.1:c.1577_1580dup	ENSP00000444259.1:p.Cys528ThrfsTer4
ENST00000545968.5:c.1577_1580dup	ENSP00000442795.1:p.Cys528ThrfsTer4
NM_000256.3:c.1577_1580dup , LRG_386t1:c.1577_1580dup MANE Select	NP_000247.2:p.Cys528ThrfsTer4
XM_011520117.1:c.1559_1562dup	XP_011518419.1:p.Cys522ThrfsTer4
XM_011520118.1:c.1577_1580dup	XP_011518420.1:p.Cys528ThrfsTer4