Canonical Allele Identifier: CA3479622

Gene: DIAPH1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141584182T>C , CM000667.2:g.141584182T>C	GRCh38
NC_000005.9:g.140963749T>C , CM000667.1:g.140963749T>C	GRCh37
NC_000005.8:g.140943933T>C	NCBI36
NG_011594.1:g.39874A>G
NG_011594.2:g.39874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.344A>G MANE Select	ENSP00000373706.4:p.Glu115Gly
ENST00000647330.1:c.179A>G	ENSP00000494308.1:p.Glu60Gly
ENST00000647433.1:c.344A>G	ENSP00000494675.1:p.Glu115Gly
ENST00000253811.10:c.212A>G	ENSP00000253811.7:p.Glu71Gly
ENST00000389054.7:c.344A>G	ENSP00000373706.4:p.Glu115Gly
ENST00000389057.9:c.317A>G	ENSP00000373709.6:p.Glu106Gly
ENST00000398557.8:c.344A>G	ENSP00000381565.5:p.Glu115Gly
ENST00000518047.5:c.317A>G	ENSP00000428268.2:p.Glu106Gly
ENST00000523100.5:c.344A>G	ENSP00000428208.1:p.Glu115Gly
ENST00000524301.1:c.182A>G	ENSP00000430587.1:p.Glu61Gly
NM_001079812.2:c.317A>G	NP_001073280.1:p.Glu106Gly
NM_001314007.1:c.344A>G	NP_001300936.1:p.Glu115Gly
NM_005219.4:c.344A>G	NP_005210.3:p.Glu115Gly
XM_011537572.1:c.308A>G	XP_011535874.1:p.Glu103Gly
XM_011537573.1:c.278A>G	XP_011535875.1:p.Glu93Gly
XM_024454384.1:c.344A>G	XP_024310152.1:p.Glu115Gly
XM_024454385.1:c.317A>G	XP_024310153.1:p.Glu106Gly
XM_024454386.1:c.308A>G	XP_024310154.1:p.Glu103Gly
XM_024454387.1:c.278A>G	XP_024310155.1:p.Glu93Gly
NM_005219.5:c.344A>G MANE Select	NP_005210.3:p.Glu115Gly
NM_001079812.3:c.317A>G	NP_001073280.1:p.Glu106Gly
NM_001314007.2:c.344A>G	NP_001300936.1:p.Glu115Gly