Canonical Allele Identifier: CA014440

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 177670
• ClinVar RCV Id: RCV000211826 ; RCV003149936
• dbSNP Id: rs727504271
• MyVariant Identifiers: chr11:g.47354135_47354144del (hg19) ; chr11:g.47332584_47332593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332588_47332597del , CM000673.2:g.47332588_47332597del	GRCh38
NC_000011.9:g.47354139_47354148del , CM000673.1:g.47354139_47354148del	GRCh37
NC_000011.8:g.47310715_47310724del	NCBI36
NG_007667.1:g.25110_25119del , LRG_386:g.25110_25119del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3600_3609del MANE Select	ENSP00000442795.1:p.Cys1201SerfsTer?
ENST00000256993.8:c.3600_3609del	ENSP00000256993.5:p.Cys1201SerfsTer?
ENST00000399249.6:c.3600_3609del	ENSP00000382193.2:p.Cys1201SerfsTer?
ENST00000545968.5:c.3600_3609del	ENSP00000442795.1:p.Cys1201SerfsTer?
NM_000256.3:c.3600_3609del , LRG_386t1:c.3600_3609del MANE Select	NP_000247.2:p.Cys1201SerfsTer?
XM_011520117.1:c.3582_3591del	XP_011518419.1:p.Cys1195SerfsTer?
XM_011520118.1:c.3519_3528del	XP_011518420.1:p.Cys1174SerfsTer?