Canonical Allele Identifier: CA10208882
Community Standard Title: NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36282673C>T , CM000684.2:g.36282673C>T GRCh38
NC_000022.10:g.36678719C>T , CM000684.1:g.36678719C>T GRCh37
NC_000022.9:g.35008665C>T NCBI36
NG_011884.2:g.110346G>A , LRG_567:g.110346G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.5878G>A MANE Select NP_002464.1:p.Glu1960Lys
ENST00000216181.11:c.5878G>A MANE Select ENSP00000216181.6:p.Glu1960Lys
NM_002473.5:c.5878G>A , LRG_567t1:c.5878G>A NP_002464.1:p.Glu1960Lys
ENST00000216181.9:c.5878G>A ENSP00000216181.5:p.Glu1960Lys
ENST00000685708.1:n.2311G>A
ENST00000685801.1:c.5941G>A ENSP00000510688.1:p.Glu1981Lys
ENST00000690244.1:n.1214G>A
ENST00000691109.1:n.6173G>A
XM_011530197.1:c.5878G>A XP_011528499.1:p.Glu1960Lys
XM_011530197.2:c.5878G>A XP_011528499.1:p.Glu1960Lys
XM_017028803.1:c.5878G>A XP_016884292.1:p.Glu1960Lys
XM_017028804.1:c.5878G>A XP_016884293.1:p.Glu1960Lys
XM_017028805.1:c.5878G>A XP_016884294.1:p.Glu1960Lys
XM_017028806.1:c.5878G>A XP_016884295.1:p.Glu1960Lys