Canonical Allele Identifier: CA012413

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181080
• ClinVar RCV Id: RCV000158366 ; RCV000538585 ; RCV002492620 ; RCV004019912
• dbSNP Id: rs730880653
• MyVariant Identifiers: chr11:g.47359033del (hg19) ; chr11:g.47337482del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337482del , CM000673.2:g.47337482del	GRCh38
NC_000011.9:g.47359033del , CM000673.1:g.47359033del	GRCh37
NC_000011.8:g.47315609del	NCBI36
NG_007667.1:g.20221del , LRG_386:g.20221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2511del MANE Select	ENSP00000442795.1:p.Ile837MetfsTer?
ENST00000256993.8:c.2511del	ENSP00000256993.5:p.Ile837MetfsTer?
ENST00000399249.6:c.2511del	ENSP00000382193.2:p.Ile837MetfsTer?
ENST00000544791.1:c.*16del	ENSP00000444259.1:n.*16del
ENST00000545968.5:c.2511del	ENSP00000442795.1:p.Ile837MetfsTer?
NM_000256.3:c.2511del , LRG_386t1:c.2511del MANE Select	NP_000247.2:p.Ile837MetfsTer?
XM_011520117.1:c.2493del	XP_011518419.1:p.Ile831MetfsTer?
XM_011520118.1:c.2430del	XP_011518420.1:p.Ile810MetfsTer?