Canonical Allele Identifier: CA10638733
Gene: MYBPC3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47342649A>G
GRCh37 chr11:g.47364200A>G
Revel Score:
ENST00000545968 (MANE Select) 0.090
ENST00000399249 0.090
ENST00000256993 0.090
gnomAD v2:
11:47364200 A / G
gnomAD v3:
11:47342649 A / G
gnomAD v4:
chr11-47342649-A-G
Joint Max Group AF 0.00007733 (AMR)
Genomes Max Group AF 0.00026043 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342649A>G , CM000673.2:g.47342649A>G GRCh38
NC_000011.9:g.47364200A>G , CM000673.1:g.47364200A>G GRCh37
NC_000011.8:g.47320776A>G NCBI36
NG_007667.1:g.15054T>C , LRG_386:g.15054T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1553T>C MANE Select ENSP00000442795.1:p.Met518Thr
ENST00000256993.8:c.1553T>C ENSP00000256993.5:p.Met518Thr
ENST00000399249.6:c.1553T>C ENSP00000382193.2:p.Met518Thr
ENST00000544791.1:c.1553T>C ENSP00000444259.1:p.Met518Thr
ENST00000545968.5:c.1553T>C ENSP00000442795.1:p.Met518Thr
NM_000256.3:c.1553T>C , LRG_386t1:c.1553T>C MANE Select NP_000247.2:p.Met518Thr
XM_011520117.1:c.1535T>C XP_011518419.1:p.Met512Thr
XM_011520118.1:c.1553T>C XP_011518420.1:p.Met518Thr
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