Canonical Allele Identifier: CA380325031

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 3072567
• ClinVar RCV Id: RCV004013589
• dbSNP Id: rs2095889836
• gnomAD v4: 11-47342604-T-C
• MyVariant Identifiers: chr11:g.47364155T>C (hg19) ; chr11:g.47342604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342604T>C , CM000673.2:g.47342604T>C	GRCh38
NC_000011.9:g.47364155T>C , CM000673.1:g.47364155T>C	GRCh37
NC_000011.8:g.47320731T>C	NCBI36
NG_007667.1:g.15099A>G , LRG_386:g.15099A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1598A>G MANE Select	ENSP00000442795.1:p.Gln533Arg
ENST00000256993.8:c.1598A>G	ENSP00000256993.5:p.Gln533Arg
ENST00000399249.6:c.1598A>G	ENSP00000382193.2:p.Gln533Arg
ENST00000544791.1:c.1598A>G	ENSP00000444259.1:p.Gln533Arg
ENST00000545968.5:c.1598A>G	ENSP00000442795.1:p.Gln533Arg
NM_000256.3:c.1598A>G , LRG_386t1:c.1598A>G MANE Select	NP_000247.2:p.Gln533Arg
XM_011520117.1:c.1580A>G	XP_011518419.1:p.Gln527Arg
XM_011520118.1:c.1598A>G	XP_011518420.1:p.Gln533Arg