Canonical Allele Identifier: CA474429545
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47364624G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343073G>C , CM000673.2:g.47343073G>C GRCh38
NC_000011.9:g.47364624G>C , CM000673.1:g.47364624G>C GRCh37
NC_000011.8:g.47321200G>C NCBI36
NG_007667.1:g.14630C>G , LRG_386:g.14630C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1299C>G MANE Select ENSP00000442795.1:p.Ala433=
ENST00000256993.8:c.1299C>G ENSP00000256993.5:p.Ala433=
ENST00000399249.6:c.1299C>G ENSP00000382193.2:p.Ala433=
ENST00000544791.1:c.1299C>G ENSP00000444259.1:p.Ala433=
ENST00000545968.5:c.1299C>G ENSP00000442795.1:p.Ala433=
NM_000256.3:c.1299C>G , LRG_386t1:c.1299C>G MANE Select NP_000247.2:p.Ala433=
XM_011520117.1:c.1281C>G XP_011518419.1:p.Ala427=
XM_011520118.1:c.1299C>G XP_011518420.1:p.Ala433=