Canonical Allele Identifier: CA380318003
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47337399-A-T
MyVariant Identifiers: chr11:g.47358950A>T (hg19) chr11:g.47337399A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337399A>T , CM000673.2:g.47337399A>T GRCh38
NC_000011.9:g.47358950A>T , CM000673.1:g.47358950A>T GRCh37
NC_000011.8:g.47315526A>T NCBI36
NG_007667.1:g.20304T>A , LRG_386:g.20304T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2594T>A MANE Select ENSP00000442795.1:p.Met865Lys
ENST00000256993.8:c.2594T>A ENSP00000256993.5:p.Met865Lys
ENST00000399249.6:c.2594T>A ENSP00000382193.2:p.Met865Lys
ENST00000544791.1:c.*99T>A ENSP00000444259.1:n.*99T>A
ENST00000545968.5:c.2594T>A ENSP00000442795.1:p.Met865Lys
NM_000256.3:c.2594T>A , LRG_386t1:c.2594T>A MANE Select NP_000247.2:p.Met865Lys
XM_011520117.1:c.2576T>A XP_011518419.1:p.Met859Lys
XM_011520118.1:c.2513T>A XP_011518420.1:p.Met838Lys
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