Canonical Allele Identifier: CA380328848
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343552G>C , CM000673.2:g.47343552G>C GRCh38
NC_000011.9:g.47365103G>C , CM000673.1:g.47365103G>C GRCh37
NC_000011.8:g.47321679G>C NCBI36
NG_007667.1:g.14151C>G , LRG_386:g.14151C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1163C>G MANE Select ENSP00000442795.1:p.Ala388Gly
ENST00000256993.8:c.1163C>G ENSP00000256993.5:p.Ala388Gly
ENST00000399249.6:c.1163C>G ENSP00000382193.2:p.Ala388Gly
ENST00000544791.1:c.1163C>G ENSP00000444259.1:p.Ala388Gly
ENST00000545968.5:c.1163C>G ENSP00000442795.1:p.Ala388Gly
NM_000256.3:c.1163C>G , LRG_386t1:c.1163C>G MANE Select NP_000247.2:p.Ala388Gly
XM_011520117.1:c.1145C>G XP_011518419.1:p.Ala382Gly
XM_011520118.1:c.1163C>G XP_011518420.1:p.Ala388Gly