Canonical Allele Identifier: CA352134298
Community Standard Title: NM_002468.5(MYD88):c.755T>A (p.Leu252Gln)
Gene: MYD88 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38141150T>A , CM000665.2:g.38141150T>A GRCh38
NC_000003.11:g.38182641T>A , CM000665.1:g.38182641T>A GRCh37
NC_000003.10:g.38157645T>A NCBI36
NG_016964.1:g.7673T>A , LRG_157:g.7673T>A
NG_023225.1:g.1093A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002468.5:c.755T>A MANE Select NP_002459.3:p.Leu252Gln
ENST00000650905.2:c.755T>A MANE Select ENSP00000498360.2:p.Leu252Gln
NM_001172566.1:c.478T>A NP_001166037.1:p.Ter160Arg
NM_001172566.2:c.439T>A NP_001166037.2:p.Ter147Arg
NM_001172567.1:c.818T>A , LRG_157t1:c.818T>A NP_001166038.1:p.Leu273Gln
NM_001172567.2:c.779T>A NP_001166038.2:p.Leu260Gln
NM_001172568.1:c.659T>A NP_001166039.1:p.Leu220Gln
NM_001172568.2:c.620T>A NP_001166039.2:p.Leu207Gln
NM_001172569.1:c.613T>A NP_001166040.1:p.Ter205Arg
NM_001172569.2:c.574T>A NP_001166040.2:p.Ter192Arg
NM_001172569.3:c.574T>A NP_001166040.2:p.Ter192Arg
NM_001365876.1:c.736T>A NP_001352805.1:p.Ter246Arg
NM_001365877.1:c.601T>A NP_001352806.1:p.Ter201Arg
NM_001374787.1:c.712T>A NP_001361716.1:p.Ter238Arg
NM_001374788.1:c.287T>A NP_001361717.1:p.Leu96Gln
NM_002468.4:c.794T>A NP_002459.2:p.Leu265Gln
NR_164663.1:n.438T>A
ENST00000396334.7:c.794T>A ENSP00000379625.3:p.Leu265Gln
ENST00000396334.8:c.755T>A ENSP00000379625.4:p.Leu252Gln
ENST00000416282.2:n.858T>A
ENST00000416282.3:n.858T>A
ENST00000417037.6:c.818T>A ENSP00000401399.2:p.Leu273Gln
ENST00000417037.8:c.620T>A ENSP00000401399.4:p.Leu207Gln
ENST00000421516.1:c.815T>A ENSP00000391753.1:p.Leu272Gln
ENST00000421516.3:c.779T>A ENSP00000391753.3:p.Leu260Gln
ENST00000424893.5:c.659T>A ENSP00000389979.1:p.Leu220Gln
ENST00000443433.6:c.613T>A ENSP00000390565.2:p.Ter205Arg
ENST00000463956.1:n.468T>A
ENST00000463956.2:n.542T>A
ENST00000481122.5:n.548T>A
ENST00000484513.1:n.1445T>A
ENST00000484513.2:n.2233T>A
ENST00000495303.5:c.478T>A ENSP00000417848.1:p.Ter160Arg
ENST00000650112.2:c.439T>A ENSP00000497991.2:p.Ter147Arg
ENST00000651800.2:c.574T>A ENSP00000499012.2:p.Ter192Arg
ENST00000652213.1:c.736T>A ENSP00000498576.1:p.Ter246Arg
ENST00000652590.1:n.983T>A
ENST00000699084.1:n.1844T>A
ENST00000699085.1:n.1620T>A
ENST00000699086.1:c.536T>A
XM_005265172.1:c.775T>A XP_005265229.1:p.Ter259Arg
XM_006713170.1:c.640T>A XP_006713233.1:p.Ter214Arg