Canonical Allele Identifier: CA2499220960
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1222609
ClinVar RCV Id: RCV001598239
dbSNP Id: rs2142850576
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333094A>T , CM000673.2:g.47333094A>T GRCh38
NC_000011.9:g.47354645A>T , CM000673.1:g.47354645A>T GRCh37
NC_000011.8:g.47311221A>T NCBI36
NG_007667.1:g.24609T>A , LRG_386:g.24609T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3330+100T>A MANE Select ENSP00000442795.1:n.3330+100T>A
ENST00000256993.8:c.3330+100T>A ENSP00000256993.5:n.3330+100T>A
ENST00000399249.6:c.3330+100T>A ENSP00000382193.2:n.3330+100T>A
ENST00000545968.5:c.3330+100T>A ENSP00000442795.1:n.3330+100T>A
NM_000256.3:c.3330+100T>A , LRG_386t1:c.3330+100T>A MANE Select NP_000247.2:n.3330+100T>A
XM_011520117.1:c.3312+100T>A XP_011518419.1:n.3312+100T>A
XM_011520118.1:c.3249+100T>A XP_011518420.1:n.3249+100T>A
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