Canonical Allele Identifier: CA1587246823
Community Standard Title: NM_005219.5(DIAPH1):c.2332C= (p.Gln778=)
Gene: DIAPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573518G= , CM000667.2:g.141573518G= GRCh38
NC_000005.9:g.140953085G= , CM000667.1:g.140953085G= GRCh37
NC_000005.8:g.140933269G= NCBI36
NG_011594.1:g.50538C=
NG_011594.2:g.50538C=

Transcript Alleles

HGVS Amino-acid Change
NM_005219.5:c.2332C= MANE Select NP_005210.3:p.Gln778=
ENST00000389054.8:c.2332C= MANE Select ENSP00000373706.4:p.Gln778=
NM_001079812.2:c.2305C= NP_001073280.1:p.Gln769=
NM_001079812.3:c.2305C= NP_001073280.1:p.Gln769=
NM_001314007.1:c.2332C= NP_001300936.1:p.Gln778=
NM_001314007.2:c.2332C= NP_001300936.1:p.Gln778=
NM_005219.4:c.2332C= NP_005210.3:p.Gln778=
ENST00000253811.10:c.2200C= ENSP00000253811.7:p.Gln734=
ENST00000389054.7:c.2332C= ENSP00000373706.4:p.Gln778=
ENST00000389057.9:c.2305C= ENSP00000373709.6:p.Gln769=
ENST00000398557.8:c.2332C= ENSP00000381565.5:p.Gln778=
ENST00000518047.5:c.2305C= ENSP00000428268.2:p.Gln769=
ENST00000647433.1:c.2332C= ENSP00000494675.1:p.Gln778=
XM_011537572.1:c.2296C= XP_011535874.1:p.Gln766=
XM_011537573.1:c.2266C= XP_011535875.1:p.Gln756=
XM_024454384.1:c.2332C= XP_024310152.1:p.Gln778=
XM_024454385.1:c.2305C= XP_024310153.1:p.Gln769=
XM_024454386.1:c.2296C= XP_024310154.1:p.Gln766=
XM_024454387.1:c.2266C= XP_024310155.1:p.Gln756=