Canonical Allele Identifier: CA474220932

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1240958
• ClinVar RCV Id: RCV001643441
• dbSNP Id: rs1595847778
• MyVariant Identifiers: chr11:g.47367858T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346307T>G , CM000673.2:g.47346307T>G	GRCh38
NC_000011.9:g.47367858T>G , CM000673.1:g.47367858T>G	GRCh37
NC_000011.8:g.47324434T>G	NCBI36
NG_007667.1:g.11396A>C , LRG_386:g.11396A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.990A>C MANE Select	ENSP00000442795.1:p.Pro330=
ENST00000256993.8:c.990A>C	ENSP00000256993.5:p.Pro330=
ENST00000399249.6:c.990A>C	ENSP00000382193.2:p.Pro330=
ENST00000544791.1:c.990A>C	ENSP00000444259.1:p.Pro330=
ENST00000545968.5:c.990A>C	ENSP00000442795.1:p.Pro330=
NM_000256.3:c.990A>C , LRG_386t1:c.990A>C MANE Select	NP_000247.2:p.Pro330=
XM_011520117.1:c.972A>C	XP_011518419.1:p.Pro324=
XM_011520118.1:c.990A>C	XP_011518420.1:p.Pro330=