Canonical Allele Identifier: CA010902

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 164102
• ClinVar RCV Id: RCV000151118 ; RCV000822866 ; RCV001188349 ; RCV002399527 ; RCV002483308
• dbSNP Id: rs727503198
• ExAC: 11:47363660 C / T
• gnomAD v2: 11-47363660-C-T
• gnomAD v3: 11-47342109-C-T
• gnomAD v4: 11-47342109-C-T
• MyVariant Identifiers: chr11:g.47363660C>T (hg19) ; chr11:g.47342109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342109C>T , CM000673.2:g.47342109C>T	GRCh38
NC_000011.9:g.47363660C>T , CM000673.1:g.47363660C>T	GRCh37
NC_000011.8:g.47320236C>T	NCBI36
NG_007667.1:g.15594G>A , LRG_386:g.15594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1672G>A MANE Select	ENSP00000442795.1:p.Ala558Thr
ENST00000256993.8:c.1672G>A	ENSP00000256993.5:p.Ala558Thr
ENST00000399249.6:c.1672G>A	ENSP00000382193.2:p.Ala558Thr
ENST00000544791.1:c.1672G>A	ENSP00000444259.1:p.Ala558Thr
ENST00000545968.5:c.1672G>A	ENSP00000442795.1:p.Ala558Thr
NM_000256.3:c.1672G>A , LRG_386t1:c.1672G>A MANE Select	NP_000247.2:p.Ala558Thr
XM_011520117.1:c.1654G>A	XP_011518419.1:p.Ala552Thr
XM_011520118.1:c.1672G>A	XP_011518420.1:p.Ala558Thr