Canonical Allele Identifier: CA380314202
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1595841534
MyVariant Identifiers: chr11:g.47354800A>T (hg19) chr11:g.47333249A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333249A>T , CM000673.2:g.47333249A>T GRCh38
NC_000011.9:g.47354800A>T , CM000673.1:g.47354800A>T GRCh37
NC_000011.8:g.47311376A>T NCBI36
NG_007667.1:g.24454T>A , LRG_386:g.24454T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3275T>A MANE Select ENSP00000442795.1:p.Val1092Asp
ENST00000256993.8:c.3275T>A ENSP00000256993.5:p.Val1092Asp
ENST00000399249.6:c.3275T>A ENSP00000382193.2:p.Val1092Asp
ENST00000545968.5:c.3275T>A ENSP00000442795.1:p.Val1092Asp
NM_000256.3:c.3275T>A , LRG_386t1:c.3275T>A MANE Select NP_000247.2:p.Val1092Asp
XM_011520117.1:c.3257T>A XP_011518419.1:p.Val1086Asp
XM_011520118.1:c.3194T>A XP_011518420.1:p.Val1065Asp
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