Canonical Allele Identifier: CA1587236747
Community Standard Title: NM_005219.5(DIAPH1):c.3637C= (p.Arg1213=)
Gene: DIAPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141524167G= , CM000667.2:g.141524167G= GRCh38
NC_000005.9:g.140903734G= , CM000667.1:g.140903734G= GRCh37
NC_000005.8:g.140883918G= NCBI36
NG_011594.1:g.99889C=
NG_011594.2:g.99889C=

Transcript Alleles

HGVS Amino-acid Change
NM_005219.5:c.3637C= MANE Select NP_005210.3:p.Arg1213=
ENST00000389054.8:c.3637C= MANE Select ENSP00000373706.4:p.Arg1213=
NM_001079812.2:c.3610C= NP_001073280.1:p.Arg1204=
NM_001079812.3:c.3610C= NP_001073280.1:p.Arg1204=
NM_001314007.1:c.3637C= NP_001300936.1:p.Arg1213=
NM_001314007.2:c.3637C= NP_001300936.1:p.Arg1213=
NM_005219.4:c.3637C= NP_005210.3:p.Arg1213=
ENST00000253811.10:c.3505C= ENSP00000253811.7:p.Arg1169=
ENST00000389054.7:c.3637C= ENSP00000373706.4:p.Arg1213=
ENST00000389057.9:c.3610C= ENSP00000373709.6:p.Arg1204=
ENST00000398557.8:c.3637C= ENSP00000381565.5:p.Arg1213=
ENST00000448451.5:c.173C=
ENST00000448451.6:c.43C= ENSP00000408159.2:p.Arg15=
ENST00000468119.3:n.158C=
ENST00000476339.1:n.589C=
ENST00000518047.5:c.3610C= ENSP00000428268.2:p.Arg1204=
ENST00000643312.1:c.43C= ENSP00000495191.1:p.Arg15=
ENST00000643718.1:n.117C=
ENST00000647433.1:c.3637C= ENSP00000494675.1:p.Arg1213=
XM_011537572.1:c.3601C= XP_011535874.1:p.Arg1201=
XM_011537573.1:c.3571C= XP_011535875.1:p.Arg1191=
XM_024454384.1:c.3760C= XP_024310152.1:p.Arg1254=
XM_024454385.1:c.3733C= XP_024310153.1:p.Arg1245=
XM_024454386.1:c.3724C= XP_024310154.1:p.Arg1242=
XM_024454387.1:c.3694C= XP_024310155.1:p.Arg1232=