Canonical Allele Identifier: CA380314744
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47355137T>A (hg19) chr11:g.47333586T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333586T>A , CM000673.2:g.47333586T>A GRCh38
NC_000011.9:g.47355137T>A , CM000673.1:g.47355137T>A GRCh37
NC_000011.8:g.47311713T>A NCBI36
NG_007667.1:g.24117A>T , LRG_386:g.24117A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3161A>T MANE Select ENSP00000442795.1:p.Asp1054Val
ENST00000256993.8:c.3161A>T ENSP00000256993.5:p.Asp1054Val
ENST00000399249.6:c.3161A>T ENSP00000382193.2:p.Asp1054Val
ENST00000545968.5:c.3161A>T ENSP00000442795.1:p.Asp1054Val
NM_000256.3:c.3161A>T , LRG_386t1:c.3161A>T MANE Select NP_000247.2:p.Asp1054Val
XM_011520117.1:c.3143A>T XP_011518419.1:p.Asp1048Val
XM_011520118.1:c.3080A>T XP_011518420.1:p.Asp1027Val
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