Canonical Allele Identifier: CA380315648
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1798834
ClinVar RCV Id: RCV002435805

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333733A>T , CM000673.2:g.47333733A>T GRCh38
NC_000011.9:g.47355284A>T , CM000673.1:g.47355284A>T GRCh37
NC_000011.8:g.47311860A>T NCBI36
NG_007667.1:g.23970T>A , LRG_386:g.23970T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3014T>A MANE Select ENSP00000442795.1:p.Val1005Glu
ENST00000256993.8:c.3014T>A ENSP00000256993.5:p.Val1005Glu
ENST00000399249.6:c.3014T>A ENSP00000382193.2:p.Val1005Glu
ENST00000545968.5:c.3014T>A ENSP00000442795.1:p.Val1005Glu
NM_000256.3:c.3014T>A , LRG_386t1:c.3014T>A MANE Select NP_000247.2:p.Val1005Glu
XM_011520117.1:c.2996T>A XP_011518419.1:p.Val999Glu
XM_011520118.1:c.2933T>A XP_011518420.1:p.Val978Glu