Canonical Allele Identifier: CA012139

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42619
• ClinVar RCV Id: RCV000035487 ; RCV000157312 ; RCV000198895 ; RCV000223694 ; RCV000245146 ; RCV001170419 ; RCV002496529 ; RCV004549420
• dbSNP Id: rs397515963
• ExAC: 11:47359280 A / AC
• gnomAD v2: 11-47359280-A-AC
• gnomAD v3: 11-47337729-A-AC
• gnomAD v4: 11-47337729-A-AC
• MyVariant Identifiers: chr11:g.47359281dupC (hg19) ; chr11:g.47359280_47359281insC (hg19) ; chr11:g.47337730dupC (hg38) ; chr11:g.47337729_47337730insC (hg38)
• PubMed: PMID:9562578 ; PMID:10736283 ; PMID:11499718 ; PMID:11499719 ; PMID:11847170 ; PMID:14563344 ; PMID:15519027 ; PMID:16679492 ; PMID:19273718 ; PMID:19356534 ; PMID:19574547 ; PMID:20505798 ; PMID:22057632 ; PMID:22115648 ; PMID:22574137 ; PMID:25335496 ; PMID:26800703 ; PMID:26914223 ; PMID:27108529

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337730dup , CM000673.2:g.47337730dup	GRCh38
NC_000011.9:g.47359281dup , CM000673.1:g.47359281dup	GRCh37
NC_000011.8:g.47315857dup	NCBI36
NG_007667.1:g.19973dup , LRG_386:g.19973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2373dup MANE Select	ENSP00000442795.1:p.Trp792ValfsTer?
ENST00000256993.8:c.2373dup	ENSP00000256993.5:p.Trp792ValfsTer?
ENST00000399249.6:c.2373dup	ENSP00000382193.2:p.Trp792ValfsTer?
ENST00000544791.1:c.2373dup	ENSP00000444259.1:p.Trp792ValfsTer16
ENST00000545968.5:c.2373dup	ENSP00000442795.1:p.Trp792ValfsTer?
NM_000256.3:c.2373dup , LRG_386t1:c.2373dup MANE Select	NP_000247.2:p.Trp792ValfsTer?
XM_011520117.1:c.2355dup	XP_011518419.1:p.Trp786ValfsTer?
XM_011520118.1:c.2292dup	XP_011518420.1:p.Trp765ValfsTer?