Canonical Allele Identifier: CA676994401

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1439298507
• MyVariant Identifiers: chr11:g.47358822A>T (hg19) ; chr11:g.47337271A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337271A>T , CM000673.2:g.47337271A>T	GRCh38
NC_000011.9:g.47358822A>T , CM000673.1:g.47358822A>T	GRCh37
NC_000011.8:g.47315398A>T	NCBI36
NG_007667.1:g.20432T>A , LRG_386:g.20432T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2602+120T>A MANE Select	ENSP00000442795.1:n.2602+120T>A
ENST00000256993.8:c.2602+120T>A	ENSP00000256993.5:n.2602+120T>A
ENST00000399249.6:c.2602+120T>A	ENSP00000382193.2:n.2602+120T>A
ENST00000544791.1:c.*107+120T>A	ENSP00000444259.1:n.*107+120T>A
ENST00000545968.5:c.2602+120T>A	ENSP00000442795.1:n.2602+120T>A
NM_000256.3:c.2602+120T>A , LRG_386t1:c.2602+120T>A MANE Select	NP_000247.2:n.2602+120T>A
XM_011520117.1:c.2584+120T>A	XP_011518419.1:n.2584+120T>A
XM_011520118.1:c.2521+120T>A	XP_011518420.1:n.2521+120T>A