Canonical Allele Identifier: CA913190269

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 619254
• ClinVar RCV Id: RCV000768473
• dbSNP Id: rs1595843598

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337451_47337452dup , CM000673.2:g.47337451_47337452dup	GRCh38
NC_000011.9:g.47359002_47359003dup , CM000673.1:g.47359002_47359003dup	GRCh37
NC_000011.8:g.47315578_47315579dup	NCBI36
NG_007667.1:g.20253_20254dup , LRG_386:g.20253_20254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2543_2544dup MANE Select	ENSP00000442795.1:p.Val849ArgfsTer?
ENST00000256993.8:c.2543_2544dup	ENSP00000256993.5:p.Val849ArgfsTer?
ENST00000399249.6:c.2543_2544dup	ENSP00000382193.2:p.Val849ArgfsTer?
ENST00000544791.1:c.*48_*49dup	ENSP00000444259.1:n.*48_*49dup
ENST00000545968.5:c.2543_2544dup	ENSP00000442795.1:p.Val849ArgfsTer?
NM_000256.3:c.2543_2544dup , LRG_386t1:c.2543_2544dup MANE Select	NP_000247.2:p.Val849ArgfsTer?
XM_011520117.1:c.2525_2526dup	XP_011518419.1:p.Val843ArgfsTer?
XM_011520118.1:c.2462_2463dup	XP_011518420.1:p.Val822ArgfsTer?