Canonical Allele Identifier: CA1587240171
Community Standard Title: NM_005219.5(DIAPH1):c.2794C= (p.Arg932=)
Gene: DIAPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141528926G= , CM000667.2:g.141528926G= GRCh38
NC_000005.9:g.140908493G= , CM000667.1:g.140908493G= GRCh37
NC_000005.8:g.140888677G= NCBI36
NG_011594.1:g.95130C=
NG_011594.2:g.95130C=

Transcript Alleles

HGVS Amino-acid Change
NM_005219.5:c.2794C= MANE Select NP_005210.3:p.Arg932=
ENST00000389054.8:c.2794C= MANE Select ENSP00000373706.4:p.Arg932=
NM_001079812.2:c.2767C= NP_001073280.1:p.Arg923=
NM_001079812.3:c.2767C= NP_001073280.1:p.Arg923=
NM_001314007.1:c.2794C= NP_001300936.1:p.Arg932=
NM_001314007.2:c.2794C= NP_001300936.1:p.Arg932=
NM_005219.4:c.2794C= NP_005210.3:p.Arg932=
ENST00000253811.10:c.2662C= ENSP00000253811.7:p.Arg888=
ENST00000389054.7:c.2794C= ENSP00000373706.4:p.Arg932=
ENST00000389057.9:c.2767C= ENSP00000373709.6:p.Arg923=
ENST00000398557.8:c.2794C= ENSP00000381565.5:p.Arg932=
ENST00000491754.5:n.294C=
ENST00000494967.5:n.367C=
ENST00000518047.5:c.2767C= ENSP00000428268.2:p.Arg923=
ENST00000518484.1:n.420C=
ENST00000647433.1:c.2794C= ENSP00000494675.1:p.Arg932=
XM_011537572.1:c.2758C= XP_011535874.1:p.Arg920=
XM_011537573.1:c.2728C= XP_011535875.1:p.Arg910=
XM_024454384.1:c.2794C= XP_024310152.1:p.Arg932=
XM_024454385.1:c.2767C= XP_024310153.1:p.Arg923=
XM_024454386.1:c.2758C= XP_024310154.1:p.Arg920=
XM_024454387.1:c.2728C= XP_024310155.1:p.Arg910=