Canonical Allele Identifier: CA474429428

Gene: MYBPC3

Linked Data

• MyVariant Identifiers: chr11:g.47364675A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343124A>G , CM000673.2:g.47343124A>G	GRCh38
NC_000011.9:g.47364675A>G , CM000673.1:g.47364675A>G	GRCh37
NC_000011.8:g.47321251A>G	NCBI36
NG_007667.1:g.14579T>C , LRG_386:g.14579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1248T>C MANE Select	ENSP00000442795.1:p.Gly416=
ENST00000256993.8:c.1248T>C	ENSP00000256993.5:p.Gly416=
ENST00000399249.6:c.1248T>C	ENSP00000382193.2:p.Gly416=
ENST00000544791.1:c.1248T>C	ENSP00000444259.1:p.Gly416=
ENST00000545968.5:c.1248T>C	ENSP00000442795.1:p.Gly416=
NM_000256.3:c.1248T>C , LRG_386t1:c.1248T>C MANE Select	NP_000247.2:p.Gly416=
XM_011520117.1:c.1230T>C	XP_011518419.1:p.Gly410=
XM_011520118.1:c.1248T>C	XP_011518420.1:p.Gly416=