Canonical Allele Identifier: CA2403811667
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36316606G= , CM000684.2:g.36316606G= GRCh38
NC_000022.10:g.36712651G= , CM000684.1:g.36712651G= GRCh37
NC_000022.9:g.35042597G= NCBI36
NG_011884.2:g.76413C= , LRG_567:g.76413C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000685187.1:n.1505C=
ENST00000685801.1:c.1291C= ENSP00000510688.1:p.Leu431=
ENST00000691109.1:n.1586C=
ENST00000691687.1:n.2089C=
ENST00000692930.1:n.1505C=
ENST00000216181.11:c.1291C= MANE Select ENSP00000216181.6:p.Leu431=
ENST00000216181.9:c.1291C= ENSP00000216181.5:p.Leu431=
ENST00000477189.1:n.479C=
NM_002473.5:c.1291C= , LRG_567t1:c.1291C= NP_002464.1:p.Leu431=
XM_011530197.1:c.1291C= XP_011528499.1:p.Leu431=
XM_011530197.2:c.1291C= XP_011528499.1:p.Leu431=
XM_017028803.1:c.1291C= XP_016884292.1:p.Leu431=
XM_017028804.1:c.1291C= XP_016884293.1:p.Leu431=
XM_017028805.1:c.1291C= XP_016884294.1:p.Leu431=
XM_017028806.1:c.1291C= XP_016884295.1:p.Leu431=
NM_002473.6:c.1291C= MANE Select NP_002464.1:p.Leu431=