Canonical Allele Identifier: CA1969335155
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333208C= , CM000673.2:g.47333208C= GRCh38
NC_000011.9:g.47354759C= , CM000673.1:g.47354759C= GRCh37
NC_000011.8:g.47311335C= NCBI36
NG_007667.1:g.24495G= , LRG_386:g.24495G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3316G= MANE Select ENSP00000442795.1:p.Asp1106=
ENST00000256993.8:c.3316G= ENSP00000256993.5:p.Asp1106=
ENST00000399249.6:c.3316G= ENSP00000382193.2:p.Asp1106=
ENST00000545968.5:c.3316G= ENSP00000442795.1:p.Asp1106=
NM_000256.3:c.3316G= , LRG_386t1:c.3316G= MANE Select NP_000247.2:p.Asp1106=
XM_011520117.1:c.3298G= XP_011518419.1:p.Asp1100=
XM_011520118.1:c.3235G= XP_011518420.1:p.Asp1079=