Canonical Allele Identifier: CA16042795
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372421
ClinVar RCV Id: RCV000413834
dbSNP Id: rs1057517769

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332576C>T , CM000673.2:g.47332576C>T GRCh38
NC_000011.9:g.47354127C>T , CM000673.1:g.47354127C>T GRCh37
NC_000011.8:g.47310703C>T NCBI36
NG_007667.1:g.25127G>A , LRG_386:g.25127G>A

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.3617G>A , LRG_386t1:c.3617G>A NP_000247.2:p.Gly1206Asp
XM_011520117.1:c.3599G>A XP_011518419.1:p.Gly1200Asp
XM_011520118.1:c.3536G>A XP_011518420.1:p.Gly1179Asp
ENST00000256993.8:c.3617G>A ENSP00000256993.5:p.Gly1206Asp
ENST00000399249.6:c.3617G>A ENSP00000382193.2:p.Gly1206Asp
ENST00000545968.5:c.3617G>A ENSP00000442795.1:p.Gly1206Asp