Canonical Allele Identifier: CA380312630
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 854702
ClinVar RCV Id: RCV001059801 RCV001799729
dbSNP Id: rs1336244582
gnomAD v2: 11-47354199-C-G
MyVariant Identifiers: chr11:g.47354199C>G (hg19) chr11:g.47332648C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332648C>G , CM000673.2:g.47332648C>G GRCh38
NC_000011.9:g.47354199C>G , CM000673.1:g.47354199C>G GRCh37
NC_000011.8:g.47310775C>G NCBI36
NG_007667.1:g.25055G>C , LRG_386:g.25055G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3545G>C MANE Select ENSP00000442795.1:p.Ser1182Thr
ENST00000256993.8:c.3545G>C ENSP00000256993.5:p.Ser1182Thr
ENST00000399249.6:c.3545G>C ENSP00000382193.2:p.Ser1182Thr
ENST00000545968.5:c.3545G>C ENSP00000442795.1:p.Ser1182Thr
NM_000256.3:c.3545G>C , LRG_386t1:c.3545G>C MANE Select NP_000247.2:p.Ser1182Thr
XM_011520117.1:c.3527G>C XP_011518419.1:p.Ser1176Thr
XM_011520118.1:c.3464G>C XP_011518420.1:p.Ser1155Thr
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