Canonical Allele Identifier: CA474429327
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47359048T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337497T>C , CM000673.2:g.47337497T>C GRCh38
NC_000011.9:g.47359048T>C , CM000673.1:g.47359048T>C GRCh37
NC_000011.8:g.47315624T>C NCBI36
NG_007667.1:g.20206A>G , LRG_386:g.20206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2496A>G MANE Select ENSP00000442795.1:p.Glu832=
ENST00000256993.8:c.2496A>G ENSP00000256993.5:p.Glu832=
ENST00000399249.6:c.2496A>G ENSP00000382193.2:p.Glu832=
ENST00000544791.1:c.*1A>G ENSP00000444259.1:n.*1A>G
ENST00000545968.5:c.2496A>G ENSP00000442795.1:p.Glu832=
NM_000256.3:c.2496A>G , LRG_386t1:c.2496A>G MANE Select NP_000247.2:p.Glu832=
XM_011520117.1:c.2478A>G XP_011518419.1:p.Glu826=
XM_011520118.1:c.2415A>G XP_011518420.1:p.Glu805=