Canonical Allele Identifier: CA380314670

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 575438
• ClinVar RCV Id: RCV000697655
• dbSNP Id: rs754747269
• MyVariant Identifiers: chr11:g.47355123C>T (hg19) ; chr11:g.47333572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333572C>T , CM000673.2:g.47333572C>T	GRCh38
NC_000011.9:g.47355123C>T , CM000673.1:g.47355123C>T	GRCh37
NC_000011.8:g.47311699C>T	NCBI36
NG_007667.1:g.24131G>A , LRG_386:g.24131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3175G>A MANE Select	ENSP00000442795.1:p.Val1059Met
ENST00000256993.8:c.3175G>A	ENSP00000256993.5:p.Val1059Met
ENST00000399249.6:c.3175G>A	ENSP00000382193.2:p.Val1059Met
ENST00000545968.5:c.3175G>A	ENSP00000442795.1:p.Val1059Met
NM_000256.3:c.3175G>A , LRG_386t1:c.3175G>A MANE Select	NP_000247.2:p.Val1059Met
XM_011520117.1:c.3157G>A	XP_011518419.1:p.Val1053Met
XM_011520118.1:c.3094G>A	XP_011518420.1:p.Val1032Met