Canonical Allele Identifier: CA891842474

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 581813
• ClinVar RCV Id: RCV000705747
• dbSNP Id: rs1565625777
• MyVariant Identifiers: chr11:g.47360071_47360074dup (hg19) ; chr11:g.47338520_47338523dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47338520_47338523dup , CM000673.2:g.47338520_47338523dup	GRCh38
NC_000011.9:g.47360071_47360074dup , CM000673.1:g.47360071_47360074dup	GRCh37
NC_000011.8:g.47316647_47316650dup	NCBI36
NG_007667.1:g.19180_19183dup , LRG_386:g.19180_19183dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2305_2308dup MANE Select	ENSP00000442795.1:p.Val771ArgfsTer?
ENST00000256993.8:c.2305_2308dup	ENSP00000256993.5:p.Val771ArgfsTer?
ENST00000399249.6:c.2305_2308dup	ENSP00000382193.2:p.Val771ArgfsTer?
ENST00000544791.1:c.2305_2308dup	ENSP00000444259.1:p.Val771ArgfsTer?
ENST00000545968.5:c.2305_2308dup	ENSP00000442795.1:p.Val771ArgfsTer?
NM_000256.3:c.2305_2308dup , LRG_386t1:c.2305_2308dup MANE Select	NP_000247.2:p.Val771ArgfsTer?
XM_011520117.1:c.2287_2290dup	XP_011518419.1:p.Val765ArgfsTer?
XM_011520118.1:c.2224_2227dup	XP_011518420.1:p.Val744ArgfsTer?