Canonical Allele Identifier: CA012139
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42619
dbSNP Id: rs397515963

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?