Canonical Allele Identifier: CA2573053508

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1308439
• ClinVar RCV Id: RCV001763351 ; RCV002458582 ; RCV003586309
• dbSNP Id: rs2142855225

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337450_47337451delinsCA , CM000673.2:g.47337450_47337451delinsCA	GRCh38
NC_000011.9:g.47359001_47359002delinsCA , CM000673.1:g.47359001_47359002delinsCA	GRCh37
NC_000011.8:g.47315577_47315578delinsCA	NCBI36
NG_007667.1:g.20252_20253delinsTG , LRG_386:g.20252_20253delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2542_2543delinsTG MANE Select	ENSP00000442795.1:p.Ala848Trp
ENST00000256993.8:c.2542_2543delinsTG	ENSP00000256993.5:p.Ala848Trp
ENST00000399249.6:c.2542_2543delinsTG	ENSP00000382193.2:p.Ala848Trp
ENST00000544791.1:c.*47_*48delinsTG	ENSP00000444259.1:n.*47_*48delinsTG
ENST00000545968.5:c.2542_2543delinsTG	ENSP00000442795.1:p.Ala848Trp
NM_000256.3:c.2542_2543delinsTG , LRG_386t1:c.2542_2543delinsTG MANE Select	NP_000247.2:p.Ala848Trp
XM_011520117.1:c.2524_2525delinsTG	XP_011518419.1:p.Ala842Trp
XM_011520118.1:c.2461_2462delinsTG	XP_011518420.1:p.Ala821Trp