Canonical Allele Identifier: CA2573146816
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1569526
ClinVar RCV Id: RCV002220742
dbSNP Id: rs2142855814
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337806G>A , CM000673.2:g.47337806G>A GRCh38
NC_000011.9:g.47359357G>A , CM000673.1:g.47359357G>A GRCh37
NC_000011.8:g.47315933G>A NCBI36
NG_007667.1:g.19897C>T , LRG_386:g.19897C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2309-12C>T MANE Select ENSP00000442795.1:n.2309-12C>T
ENST00000256993.8:c.2309-12C>T ENSP00000256993.5:n.2309-12C>T
ENST00000399249.6:c.2309-12C>T ENSP00000382193.2:n.2309-12C>T
ENST00000544791.1:c.2309-12C>T ENSP00000444259.1:n.2309-12C>T
ENST00000545968.5:c.2309-12C>T ENSP00000442795.1:n.2309-12C>T
NM_000256.3:c.2309-12C>T , LRG_386t1:c.2309-12C>T MANE Select NP_000247.2:n.2309-12C>T
XM_011520117.1:c.2291-12C>T XP_011518419.1:n.2291-12C>T
XM_011520118.1:c.2228-12C>T XP_011518420.1:n.2228-12C>T
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