Canonical Allele Identifier: CA1587247565
Gene: DIAPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573809A= , CM000667.2:g.141573809A= GRCh38
NC_000005.9:g.140953376A= , CM000667.1:g.140953376A= GRCh37
NC_000005.8:g.140933560A= NCBI36
NG_011594.1:g.50247T=
NG_011594.2:g.50247T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2041T= MANE Select ENSP00000373706.4:p.Leu681=
ENST00000647433.1:c.2041T= ENSP00000494675.1:p.Leu681=
ENST00000253811.10:c.1909T= ENSP00000253811.7:p.Leu637=
ENST00000389054.7:c.2041T= ENSP00000373706.4:p.Leu681=
ENST00000389057.9:c.2014T= ENSP00000373709.6:p.Leu672=
ENST00000398557.8:c.2041T= ENSP00000381565.5:p.Leu681=
ENST00000518047.5:c.2014T= ENSP00000428268.2:p.Leu672=
NM_001079812.2:c.2014T= NP_001073280.1:p.Leu672=
NM_001314007.1:c.2041T= NP_001300936.1:p.Leu681=
NM_005219.4:c.2041T= NP_005210.3:p.Leu681=
XM_011537572.1:c.2005T= XP_011535874.1:p.Leu669=
XM_011537573.1:c.1975T= XP_011535875.1:p.Leu659=
XM_024454384.1:c.2041T= XP_024310152.1:p.Leu681=
XM_024454385.1:c.2014T= XP_024310153.1:p.Leu672=
XM_024454386.1:c.2005T= XP_024310154.1:p.Leu669=
XM_024454387.1:c.1975T= XP_024310155.1:p.Leu659=
NM_005219.5:c.2041T= MANE Select NP_005210.3:p.Leu681=
NM_001079812.3:c.2014T= NP_001073280.1:p.Leu672=
NM_001314007.2:c.2041T= NP_001300936.1:p.Leu681=