Canonical Allele Identifier: CA2613399731

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341252-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341252G>T , CM000673.2:g.47341252G>T	GRCh38
NC_000011.9:g.47362803G>T , CM000673.1:g.47362803G>T	GRCh37
NC_000011.8:g.47319379G>T	NCBI36
NG_007667.1:g.16451C>A , LRG_386:g.16451C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1791-8C>A MANE Select	ENSP00000442795.1:n.1791-8C>A
ENST00000256993.8:c.1791-8C>A	ENSP00000256993.5:n.1791-8C>A
ENST00000399249.6:c.1791-8C>A	ENSP00000382193.2:n.1791-8C>A
ENST00000544791.1:c.1791-8C>A	ENSP00000444259.1:n.1791-8C>A
ENST00000545968.5:c.1791-8C>A	ENSP00000442795.1:n.1791-8C>A
NM_000256.3:c.1791-8C>A , LRG_386t1:c.1791-8C>A MANE Select	NP_000247.2:n.1791-8C>A
XM_011520117.1:c.1773-8C>A	XP_011518419.1:n.1773-8C>A
XM_011520118.1:c.1791-8C>A	XP_011518420.1:n.1791-8C>A