Canonical Allele Identifier: CA1969333390
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339672G= , CM000673.2:g.47339672G= GRCh38
NC_000011.9:g.47361223G= , CM000673.1:g.47361223G= GRCh37
NC_000011.8:g.47317799G= NCBI36
NG_007667.1:g.18031C= , LRG_386:g.18031C=

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2046C= MANE Select ENSP00000442795.1:p.Ile682=
ENST00000256993.8:c.2046C= ENSP00000256993.5:p.Ile682=
ENST00000399249.6:c.2046C= ENSP00000382193.2:p.Ile682=
ENST00000544791.1:c.2046C= ENSP00000444259.1:p.Ile682=
ENST00000545968.5:c.2046C= ENSP00000442795.1:p.Ile682=
NM_000256.3:c.2046C= , LRG_386t1:c.2046C= MANE Select NP_000247.2:p.Ile682=
XM_011520117.1:c.2028C= XP_011518419.1:p.Ile676=
XM_011520118.1:c.2046C= XP_011518420.1:p.Ile682=