Canonical Allele Identifier: CA2573051238

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1457802
• ClinVar RCV Id: RCV001956066 ; RCV003375491
• dbSNP Id: rs2142850736

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333196del , CM000673.2:g.47333196del	GRCh38
NC_000011.9:g.47354747del , CM000673.1:g.47354747del	GRCh37
NC_000011.8:g.47311323del	NCBI36
NG_007667.1:g.24507del , LRG_386:g.24507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3328del MANE Select	ENSP00000442795.1:p.Met1110TrpfsTer?
ENST00000256993.8:c.3328del	ENSP00000256993.5:p.Met1110TrpfsTer?
ENST00000399249.6:c.3328del	ENSP00000382193.2:p.Met1110TrpfsTer?
ENST00000545968.5:c.3328del	ENSP00000442795.1:p.Met1110TrpfsTer?
NM_000256.3:c.3328del , LRG_386t1:c.3328del MANE Select	NP_000247.2:p.Met1110TrpfsTer?
XM_011520117.1:c.3310del	XP_011518419.1:p.Met1104TrpfsTer?
XM_011520118.1:c.3247del	XP_011518420.1:p.Met1083TrpfsTer?