Canonical Allele Identifier: CA380318610

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1384539
• ClinVar RCV Id: RCV001897658
• dbSNP Id: rs1270948572
• gnomAD v2: 11-47359250-G-T
• MyVariant Identifiers: chr11:g.47359250G>T (hg19) ; chr11:g.47337699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337699G>T , CM000673.2:g.47337699G>T	GRCh38
NC_000011.9:g.47359250G>T , CM000673.1:g.47359250G>T	GRCh37
NC_000011.8:g.47315826G>T	NCBI36
NG_007667.1:g.20004C>A , LRG_386:g.20004C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2404C>A MANE Select	ENSP00000442795.1:p.Pro802Thr
ENST00000256993.8:c.2404C>A	ENSP00000256993.5:p.Pro802Thr
ENST00000399249.6:c.2404C>A	ENSP00000382193.2:p.Pro802Thr
ENST00000544791.1:c.2404C>A	ENSP00000444259.1:p.Pro802Thr
ENST00000545968.5:c.2404C>A	ENSP00000442795.1:p.Pro802Thr
NM_000256.3:c.2404C>A , LRG_386t1:c.2404C>A MANE Select	NP_000247.2:p.Pro802Thr
XM_011520117.1:c.2386C>A	XP_011518419.1:p.Pro796Thr
XM_011520118.1:c.2323C>A	XP_011518420.1:p.Pro775Thr