Canonical Allele Identifier: CA323591040
Community Standard Title: NM_002473.6(MYH9):c.4077C>T (p.Ile1359=)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36293347G>A , CM000684.2:g.36293347G>A GRCh38
NC_000022.10:g.36689393G>A , CM000684.1:g.36689393G>A GRCh37
NC_000022.9:g.35019339G>A NCBI36
NG_011884.2:g.99672C>T , LRG_567:g.99672C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.4077C>T MANE Select NP_002464.1:p.Ile1359=
ENST00000216181.11:c.4077C>T MANE Select ENSP00000216181.6:p.Ile1359=
NM_002473.5:c.4077C>T , LRG_567t1:c.4077C>T NP_002464.1:p.Ile1359=
ENST00000216181.9:c.4077C>T ENSP00000216181.5:p.Ile1359=
ENST00000685801.1:c.4140C>T ENSP00000510688.1:p.Ile1380=
ENST00000691109.1:n.4372C>T
XM_011530197.1:c.4077C>T XP_011528499.1:p.Ile1359=
XM_011530197.2:c.4077C>T XP_011528499.1:p.Ile1359=
XM_017028803.1:c.4077C>T XP_016884292.1:p.Ile1359=
XM_017028804.1:c.4077C>T XP_016884293.1:p.Ile1359=
XM_017028805.1:c.4077C>T XP_016884294.1:p.Ile1359=
XM_017028806.1:c.4077C>T XP_016884295.1:p.Ile1359=