Canonical Allele Identifier: CA2403801543
Community Standard Title: NM_002473.6(MYH9):c.3493C= (p.Arg1165=)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36295069G= , CM000684.2:g.36295069G= GRCh38
NC_000022.10:g.36691115G= , CM000684.1:g.36691115G= GRCh37
NC_000022.9:g.35021061G= NCBI36
NG_011884.2:g.97950C= , LRG_567:g.97950C=

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.3493C= MANE Select NP_002464.1:p.Arg1165=
ENST00000216181.11:c.3493C= MANE Select ENSP00000216181.6:p.Arg1165=
NM_002473.5:c.3493C= , LRG_567t1:c.3493C= NP_002464.1:p.Arg1165=
ENST00000216181.9:c.3493C= ENSP00000216181.5:p.Arg1165=
ENST00000685801.1:c.3556C= ENSP00000510688.1:p.Arg1186=
ENST00000691109.1:n.3788C=
XM_011530197.1:c.3493C= XP_011528499.1:p.Arg1165=
XM_011530197.2:c.3493C= XP_011528499.1:p.Arg1165=
XM_017028803.1:c.3493C= XP_016884292.1:p.Arg1165=
XM_017028804.1:c.3493C= XP_016884293.1:p.Arg1165=
XM_017028805.1:c.3493C= XP_016884294.1:p.Arg1165=
XM_017028806.1:c.3493C= XP_016884295.1:p.Arg1165=