Canonical Allele Identifier: CA380331275
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 920757
dbSNP Id: rs2095893984

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346266T>C , CM000673.2:g.47346266T>C GRCh38
NC_000011.9:g.47367817T>C , CM000673.1:g.47367817T>C GRCh37
NC_000011.8:g.47324393T>C NCBI36
NG_007667.1:g.11437A>G , LRG_386:g.11437A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1031A>G MANE Select ENSP00000442795.1:p.Asp344Gly
ENST00000256993.8:c.1031A>G ENSP00000256993.5:p.Asp344Gly
ENST00000399249.6:c.1031A>G ENSP00000382193.2:p.Asp344Gly
ENST00000544791.1:c.1031A>G ENSP00000444259.1:p.Asp344Gly
ENST00000545968.5:c.1031A>G ENSP00000442795.1:p.Asp344Gly
NM_000256.3:c.1031A>G , LRG_386t1:c.1031A>G MANE Select NP_000247.2:p.Asp344Gly
XM_011520117.1:c.1013A>G XP_011518419.1:p.Asp338Gly
XM_011520118.1:c.1031A>G XP_011518420.1:p.Asp344Gly