Canonical Allele Identifier: CA257085

Gene: MYH9

Linked Data

• ClinVar Variation Id: 14073
• ClinVar RCV Id: RCV000015119 ; RCV000790361 ; RCV001310800 ; RCV002466403
• dbSNP Id: rs80338834
• MyVariant Identifiers: chr22:g.36680520C>T (hg19) ; chr22:g.36284474C>T (hg38)
• PubMed: PMID:8280620 ; PMID:10973259 ; PMID:10973260 ; PMID:11590545 ; PMID:20301740

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36284474C>T , CM000684.2:g.36284474C>T	GRCh38
NC_000022.10:g.36680520C>T , CM000684.1:g.36680520C>T	GRCh37
NC_000022.9:g.35010466C>T	NCBI36
NG_011884.2:g.108545G>A , LRG_567:g.108545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.1954G>A
ENST00000685801.1:c.5584G>A	ENSP00000510688.1:p.Glu1862Lys
ENST00000690244.1:n.857G>A
ENST00000691109.1:n.5816G>A
ENST00000216181.11:c.5521G>A MANE Select	ENSP00000216181.6:p.Glu1841Lys
ENST00000216181.9:c.5521G>A	ENSP00000216181.5:p.Glu1841Lys
ENST00000475726.5:n.551G>A
ENST00000486218.1:n.528G>A
NM_002473.5:c.5521G>A , LRG_567t1:c.5521G>A	NP_002464.1:p.Glu1841Lys
XM_011530197.1:c.5521G>A	XP_011528499.1:p.Glu1841Lys
XM_011530197.2:c.5521G>A	XP_011528499.1:p.Glu1841Lys
XM_017028803.1:c.5521G>A	XP_016884292.1:p.Glu1841Lys
XM_017028804.1:c.5521G>A	XP_016884293.1:p.Glu1841Lys
XM_017028805.1:c.5521G>A	XP_016884294.1:p.Glu1841Lys
XM_017028806.1:c.5521G>A	XP_016884295.1:p.Glu1841Lys
NM_002473.6:c.5521G>A MANE Select	NP_002464.1:p.Glu1841Lys