Canonical Allele Identifier: CA2580084194

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1721861
• ClinVar RCV Id: RCV002302219

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332576_47332577delinsTT , CM000673.2:g.47332576_47332577delinsTT	GRCh38
NC_000011.9:g.47354127_47354128delinsTT , CM000673.1:g.47354127_47354128delinsTT	GRCh37
NC_000011.8:g.47310703_47310704delinsTT	NCBI36
NG_007667.1:g.25126_25127delinsAA , LRG_386:g.25126_25127delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3616_3617delinsAA MANE Select	ENSP00000442795.1:p.Gly1206Asn
ENST00000256993.8:c.3616_3617delinsAA	ENSP00000256993.5:p.Gly1206Asn
ENST00000399249.6:c.3616_3617delinsAA	ENSP00000382193.2:p.Gly1206Asn
ENST00000545968.5:c.3616_3617delinsAA	ENSP00000442795.1:p.Gly1206Asn
NM_000256.3:c.3616_3617delinsAA , LRG_386t1:c.3616_3617delinsAA MANE Select	NP_000247.2:p.Gly1206Asn
XM_011520117.1:c.3598_3599delinsAA	XP_011518419.1:p.Gly1200Asn
XM_011520118.1:c.3535_3536delinsAA	XP_011518420.1:p.Gly1179Asn