Canonical Allele Identifier: CA380315630
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47355279A>T (hg19) chr11:g.47333728A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333728A>T , CM000673.2:g.47333728A>T GRCh38
NC_000011.9:g.47355279A>T , CM000673.1:g.47355279A>T GRCh37
NC_000011.8:g.47311855A>T NCBI36
NG_007667.1:g.23975T>A , LRG_386:g.23975T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3019T>A MANE Select ENSP00000442795.1:p.Trp1007Arg
ENST00000256993.8:c.3019T>A ENSP00000256993.5:p.Trp1007Arg
ENST00000399249.6:c.3019T>A ENSP00000382193.2:p.Trp1007Arg
ENST00000545968.5:c.3019T>A ENSP00000442795.1:p.Trp1007Arg
NM_000256.3:c.3019T>A , LRG_386t1:c.3019T>A MANE Select NP_000247.2:p.Trp1007Arg
XM_011520117.1:c.3001T>A XP_011518419.1:p.Trp1001Arg
XM_011520118.1:c.2938T>A XP_011518420.1:p.Trp980Arg
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