Canonical Allele Identifier: CA380314175
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47354793G>T (hg19) chr11:g.47333242G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333242G>T , CM000673.2:g.47333242G>T GRCh38
NC_000011.9:g.47354793G>T , CM000673.1:g.47354793G>T GRCh37
NC_000011.8:g.47311369G>T NCBI36
NG_007667.1:g.24461C>A , LRG_386:g.24461C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3282C>A MANE Select ENSP00000442795.1:p.Asn1094Lys
ENST00000256993.8:c.3282C>A ENSP00000256993.5:p.Asn1094Lys
ENST00000399249.6:c.3282C>A ENSP00000382193.2:p.Asn1094Lys
ENST00000545968.5:c.3282C>A ENSP00000442795.1:p.Asn1094Lys
NM_000256.3:c.3282C>A , LRG_386t1:c.3282C>A MANE Select NP_000247.2:p.Asn1094Lys
XM_011520117.1:c.3264C>A XP_011518419.1:p.Asn1088Lys
XM_011520118.1:c.3201C>A XP_011518420.1:p.Asn1067Lys
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