Canonical Allele Identifier: CA380318276
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337513T>G , CM000673.2:g.47337513T>G GRCh38
NC_000011.9:g.47359064T>G , CM000673.1:g.47359064T>G GRCh37
NC_000011.8:g.47315640T>G NCBI36
NG_007667.1:g.20190A>C , LRG_386:g.20190A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2480A>C MANE Select ENSP00000442795.1:p.Gln827Pro
ENST00000256993.8:c.2480A>C ENSP00000256993.5:p.Gln827Pro
ENST00000399249.6:c.2480A>C ENSP00000382193.2:p.Gln827Pro
ENST00000544791.1:c.2414-2A>C ENSP00000444259.1:n.2414-2A>C
ENST00000545968.5:c.2480A>C ENSP00000442795.1:p.Gln827Pro
NM_000256.3:c.2480A>C , LRG_386t1:c.2480A>C MANE Select NP_000247.2:p.Gln827Pro
XM_011520117.1:c.2462A>C XP_011518419.1:p.Gln821Pro
XM_011520118.1:c.2399A>C XP_011518420.1:p.Gln800Pro