Canonical Allele Identifier: CA10209126

Gene: MYH9

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36285751C>T , CM000684.2:g.36285751C>T	GRCh38
NC_000022.10:g.36681797C>T , CM000684.1:g.36681797C>T	GRCh37
NC_000022.9:g.35011743C>T	NCBI36
NG_011884.2:g.107268G>A , LRG_567:g.107268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.1614G>A
ENST00000685801.1:c.5244G>A	ENSP00000510688.1:p.Leu1748=
ENST00000690244.1:n.517G>A
ENST00000691109.1:n.5476G>A
ENST00000216181.11:c.5181G>A MANE Select	ENSP00000216181.6:p.Leu1727=
ENST00000216181.9:c.5181G>A	ENSP00000216181.5:p.Leu1727=
ENST00000475726.5:n.211G>A
ENST00000486218.1:n.188G>A
NM_002473.5:c.5181G>A , LRG_567t1:c.5181G>A	NP_002464.1:p.Leu1727=
XM_011530197.1:c.5181G>A	XP_011528499.1:p.Leu1727=
XM_011530197.2:c.5181G>A	XP_011528499.1:p.Leu1727=
XM_017028803.1:c.5181G>A	XP_016884292.1:p.Leu1727=
XM_017028804.1:c.5181G>A	XP_016884293.1:p.Leu1727=
XM_017028805.1:c.5181G>A	XP_016884294.1:p.Leu1727=
XM_017028806.1:c.5181G>A	XP_016884295.1:p.Leu1727=
NM_002473.6:c.5181G>A MANE Select	NP_002464.1:p.Leu1727=