Canonical Allele Identifier: CA10210008
Community Standard Title: NM_002473.6(MYH9):c.2344G>A (p.Val782Ile)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36304041C>T , CM000684.2:g.36304041C>T GRCh38
NC_000022.10:g.36700087C>T , CM000684.1:g.36700087C>T GRCh37
NC_000022.9:g.35030033C>T NCBI36
NG_011884.2:g.88978G>A , LRG_567:g.88978G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.2344G>A MANE Select NP_002464.1:p.Val782Ile
ENST00000216181.11:c.2344G>A MANE Select ENSP00000216181.6:p.Val782Ile
NM_002473.5:c.2344G>A , LRG_567t1:c.2344G>A NP_002464.1:p.Val782Ile
ENST00000216181.9:c.2344G>A ENSP00000216181.5:p.Val782Ile
ENST00000685801.1:c.2407G>A ENSP00000510688.1:p.Val803Ile
ENST00000691109.1:n.2639G>A
XM_011530197.1:c.2344G>A XP_011528499.1:p.Val782Ile
XM_011530197.2:c.2344G>A XP_011528499.1:p.Val782Ile
XM_017028803.1:c.2344G>A XP_016884292.1:p.Val782Ile
XM_017028804.1:c.2344G>A XP_016884293.1:p.Val782Ile
XM_017028805.1:c.2344G>A XP_016884294.1:p.Val782Ile
XM_017028806.1:c.2344G>A XP_016884295.1:p.Val782Ile