Canonical Allele Identifier: CA013325

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 177622
• ClinVar RCV Id: RCV000154201 ; RCV000208257 ; RCV000688819 ; RCV000766363 ; RCV001190892 ; RCV002433671
• dbSNP Id: rs727504235
• ExAC: 11:47355293 C / T
• gnomAD v2: 11-47355293-C-T
• gnomAD v3: 11-47333742-C-T
• gnomAD v4: 11-47333742-C-T
• COSMIC: COSM5506362 ; COSM5506363
• MyVariant Identifiers: chr11:g.47355293C>T (hg19) ; chr11:g.47333742C>T (hg38)
• PubMed: PMID:11815426 ; PMID:20031602

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333742C>T , CM000673.2:g.47333742C>T	GRCh38
NC_000011.9:g.47355293C>T , CM000673.1:g.47355293C>T	GRCh37
NC_000011.8:g.47311869C>T	NCBI36
NG_007667.1:g.23961G>A , LRG_386:g.23961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3005G>A MANE Select	ENSP00000442795.1:p.Arg1002Gln
ENST00000256993.8:c.3005G>A	ENSP00000256993.5:p.Arg1002Gln
ENST00000399249.6:c.3005G>A	ENSP00000382193.2:p.Arg1002Gln
ENST00000545968.5:c.3005G>A	ENSP00000442795.1:p.Arg1002Gln
NM_000256.3:c.3005G>A , LRG_386t1:c.3005G>A MANE Select	NP_000247.2:p.Arg1002Gln
XM_011520117.1:c.2987G>A	XP_011518419.1:p.Arg996Gln
XM_011520118.1:c.2924G>A	XP_011518420.1:p.Arg975Gln