Canonical Allele Identifier: CA2580084177
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185769
ClinVar RCV Id: RCV002619831

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346382A>C , CM000673.2:g.47346382A>C GRCh38
NC_000011.9:g.47367933A>C , CM000673.1:g.47367933A>C GRCh37
NC_000011.8:g.47324509A>C NCBI36
NG_007667.1:g.11321T>G , LRG_386:g.11321T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.927-12T>G MANE Select ENSP00000442795.1:n.927-12T>G
ENST00000256993.8:c.927-12T>G ENSP00000256993.5:n.927-12T>G
ENST00000399249.6:c.927-12T>G ENSP00000382193.2:n.927-12T>G
ENST00000544791.1:c.927-12T>G ENSP00000444259.1:n.927-12T>G
ENST00000545968.5:c.927-12T>G ENSP00000442795.1:n.927-12T>G
NM_000256.3:c.927-12T>G , LRG_386t1:c.927-12T>G MANE Select NP_000247.2:n.927-12T>G
XM_011520117.1:c.909-12T>G XP_011518419.1:n.909-12T>G
XM_011520118.1:c.927-12T>G XP_011518420.1:n.927-12T>G