Canonical Allele Identifier: CA380314212
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47354803T>G (hg19) chr11:g.47333252T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333252T>G , CM000673.2:g.47333252T>G GRCh38
NC_000011.9:g.47354803T>G , CM000673.1:g.47354803T>G GRCh37
NC_000011.8:g.47311379T>G NCBI36
NG_007667.1:g.24451A>C , LRG_386:g.24451A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3272A>C MANE Select ENSP00000442795.1:p.Asp1091Ala
ENST00000256993.8:c.3272A>C ENSP00000256993.5:p.Asp1091Ala
ENST00000399249.6:c.3272A>C ENSP00000382193.2:p.Asp1091Ala
ENST00000545968.5:c.3272A>C ENSP00000442795.1:p.Asp1091Ala
NM_000256.3:c.3272A>C , LRG_386t1:c.3272A>C MANE Select NP_000247.2:p.Asp1091Ala
XM_011520117.1:c.3254A>C XP_011518419.1:p.Asp1085Ala
XM_011520118.1:c.3191A>C XP_011518420.1:p.Asp1064Ala
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