Canonical Allele Identifier: CA361571671

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141516858G>A , CM000667.2:g.141516858G>A	GRCh38
NC_000005.9:g.140896425G>A , CM000667.1:g.140896425G>A	GRCh37
NC_000005.8:g.140876609G>A	NCBI36
NG_011594.1:g.107198C>T
NG_011594.2:g.107198C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.3812C>T MANE Select	NP_005210.3:p.Ala1271Val
ENST00000389054.8:c.3812C>T MANE Select	ENSP00000373706.4:p.Ala1271Val
NM_001079812.2:c.3785C>T	NP_001073280.1:p.Ala1262Val
NM_001079812.3:c.3785C>T	NP_001073280.1:p.Ala1262Val
NM_001314007.1:c.*112C>T	NP_001300936.1:n.*112C>T
NM_001314007.2:c.*112C>T	NP_001300936.1:n.*112C>T
NM_005219.4:c.3812C>T	NP_005210.3:p.Ala1271Val
ENST00000253811.10:c.3680C>T	ENSP00000253811.7:p.Ala1227Val
ENST00000389054.7:c.3812C>T	ENSP00000373706.4:p.Ala1271Val
ENST00000389057.9:c.3785C>T	ENSP00000373709.6:p.Ala1262Val
ENST00000398557.8:c.3812C>T	ENSP00000381565.5:p.Ala1271Val
ENST00000448451.5:c.401C>T
ENST00000448451.6:c.218C>T	ENSP00000408159.2:p.Ala73Val
ENST00000468119.3:n.333C>T
ENST00000476339.1:n.764C>T
ENST00000518047.5:c.3785C>T	ENSP00000428268.2:p.Ala1262Val
ENST00000643312.1:c.218C>T	ENSP00000495191.1:p.Ala73Val
ENST00000643718.1:n.443C>T
ENST00000647433.1:c.*112C>T	ENSP00000494675.1:n.*112C>T
XM_011537572.1:c.3776C>T	XP_011535874.1:p.Ala1259Val
XM_011537573.1:c.3746C>T	XP_011535875.1:p.Ala1249Val
XM_024454384.1:c.3935C>T	XP_024310152.1:p.Ala1312Val
XM_024454385.1:c.3908C>T	XP_024310153.1:p.Ala1303Val
XM_024454386.1:c.3899C>T	XP_024310154.1:p.Ala1300Val
XM_024454387.1:c.3869C>T	XP_024310155.1:p.Ala1290Val