Canonical Allele Identifier: CA1587247699
Gene: DIAPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573841G= , CM000667.2:g.141573841G= GRCh38
NC_000005.9:g.140953408G= , CM000667.1:g.140953408G= GRCh37
NC_000005.8:g.140933592G= NCBI36
NG_011594.1:g.50215C=
NG_011594.2:g.50215C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2009C= MANE Select ENSP00000373706.4:p.Pro670=
ENST00000647433.1:c.2009C= ENSP00000494675.1:p.Pro670=
ENST00000253811.10:c.1877C= ENSP00000253811.7:p.Pro626=
ENST00000389054.7:c.2009C= ENSP00000373706.4:p.Pro670=
ENST00000389057.9:c.1982C= ENSP00000373709.6:p.Pro661=
ENST00000398557.8:c.2009C= ENSP00000381565.5:p.Pro670=
ENST00000518047.5:c.1982C= ENSP00000428268.2:p.Pro661=
NM_001079812.2:c.1982C= NP_001073280.1:p.Pro661=
NM_001314007.1:c.2009C= NP_001300936.1:p.Pro670=
NM_005219.4:c.2009C= NP_005210.3:p.Pro670=
XM_011537572.1:c.1973C= XP_011535874.1:p.Pro658=
XM_011537573.1:c.1943C= XP_011535875.1:p.Pro648=
XM_024454384.1:c.2009C= XP_024310152.1:p.Pro670=
XM_024454385.1:c.1982C= XP_024310153.1:p.Pro661=
XM_024454386.1:c.1973C= XP_024310154.1:p.Pro658=
XM_024454387.1:c.1943C= XP_024310155.1:p.Pro648=
NM_005219.5:c.2009C= MANE Select NP_005210.3:p.Pro670=
NM_001079812.3:c.1982C= NP_001073280.1:p.Pro661=
NM_001314007.2:c.2009C= NP_001300936.1:p.Pro670=