Canonical Allele Identifier: CA2580084271

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1994281
• ClinVar RCV Id: RCV002818998

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342923del , CM000673.2:g.47342923del	GRCh38
NC_000011.9:g.47364474del , CM000673.1:g.47364474del	GRCh37
NC_000011.8:g.47321050del	NCBI36
NG_007667.1:g.14780del , LRG_386:g.14780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1364del MANE Select	ENSP00000442795.1:p.Leu455ProfsTer11
ENST00000256993.8:c.1364del	ENSP00000256993.5:p.Leu455ProfsTer11
ENST00000399249.6:c.1364del	ENSP00000382193.2:p.Leu455ProfsTer11
ENST00000544791.1:c.1364del	ENSP00000444259.1:p.Leu455ProfsTer11
ENST00000545968.5:c.1364del	ENSP00000442795.1:p.Leu455ProfsTer11
NM_000256.3:c.1364del , LRG_386t1:c.1364del MANE Select	NP_000247.2:p.Leu455ProfsTer11
XM_011520117.1:c.1346del	XP_011518419.1:p.Leu449ProfsTer11
XM_011520118.1:c.1364del	XP_011518420.1:p.Leu455ProfsTer11