Canonical Allele Identifier: CA011540

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 177639
• ClinVar RCV Id: RCV000154223
• dbSNP Id: rs727504250
• MyVariant Identifiers: chr11:g.47361319G>C (hg19) ; chr11:g.47339768G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339768G>C , CM000673.2:g.47339768G>C	GRCh38
NC_000011.9:g.47361319G>C , CM000673.1:g.47361319G>C	GRCh37
NC_000011.8:g.47317895G>C	NCBI36
NG_007667.1:g.17935C>G , LRG_386:g.17935C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1950C>G MANE Select	ENSP00000442795.1:p.Asp650Glu
ENST00000256993.8:c.1950C>G	ENSP00000256993.5:p.Asp650Glu
ENST00000399249.6:c.1950C>G	ENSP00000382193.2:p.Asp650Glu
ENST00000544791.1:c.1950C>G	ENSP00000444259.1:p.Asp650Glu
ENST00000545968.5:c.1950C>G	ENSP00000442795.1:p.Asp650Glu
NM_000256.3:c.1950C>G , LRG_386t1:c.1950C>G MANE Select	NP_000247.2:p.Asp650Glu
XM_011520117.1:c.1932C>G	XP_011518419.1:p.Asp644Glu
XM_011520118.1:c.1950C>G	XP_011518420.1:p.Asp650Glu