Canonical Allele Identifier: CA010761

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 164107
• ClinVar RCV Id: RCV000707508 ; RCV000617635 ; RCV000158105 ; RCV002243823
• dbSNP Id: rs111437311
• MyVariant Identifiers: chr11:g.47364127A>G (hg19) ; chr11:g.47342576A>G (hg38)
• PubMed: PMID:12707239 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342576A>G , CM000673.2:g.47342576A>G	GRCh38
NC_000011.9:g.47364127A>G , CM000673.1:g.47364127A>G	GRCh37
NC_000011.8:g.47320703A>G	NCBI36
NG_007667.1:g.15127T>C , LRG_386:g.15127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1624+2T>C MANE Select	ENSP00000442795.1:n.1624+2T>C
ENST00000256993.8:c.1624+2T>C	ENSP00000256993.5:n.1624+2T>C
ENST00000399249.6:c.1624+2T>C	ENSP00000382193.2:n.1624+2T>C
ENST00000544791.1:c.1624+2T>C	ENSP00000444259.1:n.1624+2T>C
ENST00000545968.5:c.1624+2T>C	ENSP00000442795.1:n.1624+2T>C
NM_000256.3:c.1624+2T>C , LRG_386t1:c.1624+2T>C MANE Select	NP_000247.2:n.1624+2T>C
XM_011520117.1:c.1606+2T>C	XP_011518419.1:n.1606+2T>C
XM_011520118.1:c.1624+2T>C	XP_011518420.1:n.1624+2T>C