Canonical Allele Identifier: CA380326848

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2505346
• ClinVar RCV Id: RCV003234615
• MyVariant Identifiers: chr11:g.47364594A>T (hg19) ; chr11:g.47343043A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343043A>T , CM000673.2:g.47343043A>T	GRCh38
NC_000011.9:g.47364594A>T , CM000673.1:g.47364594A>T	GRCh37
NC_000011.8:g.47321170A>T	NCBI36
NG_007667.1:g.14660T>A , LRG_386:g.14660T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1329T>A MANE Select	ENSP00000442795.1:p.Cys443Ter
ENST00000256993.8:c.1329T>A	ENSP00000256993.5:p.Cys443Ter
ENST00000399249.6:c.1329T>A	ENSP00000382193.2:p.Cys443Ter
ENST00000544791.1:c.1329T>A	ENSP00000444259.1:p.Cys443Ter
ENST00000545968.5:c.1329T>A	ENSP00000442795.1:p.Cys443Ter
NM_000256.3:c.1329T>A , LRG_386t1:c.1329T>A MANE Select	NP_000247.2:p.Cys443Ter
XM_011520117.1:c.1311T>A	XP_011518419.1:p.Cys437Ter
XM_011520118.1:c.1329T>A	XP_011518420.1:p.Cys443Ter