Canonical Allele Identifier: CA012147

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 36605
• ClinVar RCV Id: RCV000030283 ; RCV000223788 ; RCV000228493 ; RCV000621159 ; RCV002477027
• dbSNP Id: rs187830361
• ExAC: 11:47359280 A / G
• gnomAD v2: 11-47359280-A-G
• gnomAD v3: 11-47337729-A-G
• gnomAD v4: 11-47337729-A-G
• MyVariant Identifiers: chr11:g.47359280A>G (hg19) ; chr11:g.47337729A>G (hg38)
• PubMed: PMID:15519027 ; PMID:19808356 ; PMID:21310275 ; PMID:23074333 ; PMID:23299917 ; PMID:24793961 ; PMID:25637381 ; PMID:26914223 ; PMID:27114410 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337729A>G , CM000673.2:g.47337729A>G	GRCh38
NC_000011.9:g.47359280A>G , CM000673.1:g.47359280A>G	GRCh37
NC_000011.8:g.47315856A>G	NCBI36
NG_007667.1:g.19974T>C , LRG_386:g.19974T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2374T>C MANE Select	ENSP00000442795.1:p.Trp792Arg
ENST00000256993.8:c.2374T>C	ENSP00000256993.5:p.Trp792Arg
ENST00000399249.6:c.2374T>C	ENSP00000382193.2:p.Trp792Arg
ENST00000544791.1:c.2374T>C	ENSP00000444259.1:p.Trp792Arg
ENST00000545968.5:c.2374T>C	ENSP00000442795.1:p.Trp792Arg
NM_000256.3:c.2374T>C , LRG_386t1:c.2374T>C MANE Select	NP_000247.2:p.Trp792Arg
XM_011520117.1:c.2356T>C	XP_011518419.1:p.Trp786Arg
XM_011520118.1:c.2293T>C	XP_011518420.1:p.Trp765Arg