Canonical Allele Identifier: CA380314466
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47354862A>C (hg19) chr11:g.47333311A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333311A>C , CM000673.2:g.47333311A>C GRCh38
NC_000011.9:g.47354862A>C , CM000673.1:g.47354862A>C GRCh37
NC_000011.8:g.47311438A>C NCBI36
NG_007667.1:g.24392T>G , LRG_386:g.24392T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3213T>G MANE Select ENSP00000442795.1:p.Asp1071Glu
ENST00000256993.8:c.3213T>G ENSP00000256993.5:p.Asp1071Glu
ENST00000399249.6:c.3213T>G ENSP00000382193.2:p.Asp1071Glu
ENST00000545968.5:c.3213T>G ENSP00000442795.1:p.Asp1071Glu
NM_000256.3:c.3213T>G , LRG_386t1:c.3213T>G MANE Select NP_000247.2:p.Asp1071Glu
XM_011520117.1:c.3195T>G XP_011518419.1:p.Asp1065Glu
XM_011520118.1:c.3132T>G XP_011518420.1:p.Asp1044Glu
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