Canonical Allele Identifier: CA044108
Gene: MYBPC3 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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