Canonical Allele Identifier: CA380310416
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47353634A>C (hg19) chr11:g.47332083A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332083A>C , CM000673.2:g.47332083A>C GRCh38
NC_000011.9:g.47353634A>C , CM000673.1:g.47353634A>C GRCh37
NC_000011.8:g.47310210A>C NCBI36
NG_007667.1:g.25620T>G , LRG_386:g.25620T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3803T>G MANE Select ENSP00000442795.1:p.Leu1268Arg
ENST00000256993.8:c.3803T>G ENSP00000256993.5:p.Leu1268Arg
ENST00000399249.6:c.3803T>G ENSP00000382193.2:p.Leu1268Arg
ENST00000545968.5:c.3803T>G ENSP00000442795.1:p.Leu1268Arg
NM_000256.3:c.3803T>G , LRG_386t1:c.3803T>G MANE Select NP_000247.2:p.Leu1268Arg
XM_011520117.1:c.3785T>G XP_011518419.1:p.Leu1262Arg
XM_011520118.1:c.3722T>G XP_011518420.1:p.Leu1241Arg
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