Canonical Allele Identifier: CA2580084261

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1806622
• ClinVar RCV Id: RCV002474051 ; RCV003586378

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342751G>T , CM000673.2:g.47342751G>T	GRCh38
NC_000011.9:g.47364302G>T , CM000673.1:g.47364302G>T	GRCh37
NC_000011.8:g.47320878G>T	NCBI36
NG_007667.1:g.14952C>A , LRG_386:g.14952C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1458-7C>A MANE Select	ENSP00000442795.1:n.1458-7C>A
ENST00000256993.8:c.1458-7C>A	ENSP00000256993.5:n.1458-7C>A
ENST00000399249.6:c.1458-7C>A	ENSP00000382193.2:n.1458-7C>A
ENST00000544791.1:c.1458-7C>A	ENSP00000444259.1:n.1458-7C>A
ENST00000545968.5:c.1458-7C>A	ENSP00000442795.1:n.1458-7C>A
NM_000256.3:c.1458-7C>A , LRG_386t1:c.1458-7C>A MANE Select	NP_000247.2:n.1458-7C>A
XM_011520117.1:c.1440-7C>A	XP_011518419.1:n.1440-7C>A
XM_011520118.1:c.1458-7C>A	XP_011518420.1:n.1458-7C>A