Canonical Allele Identifier: CA361588003

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141534409T>C , CM000667.2:g.141534409T>C	GRCh38
NC_000005.9:g.140913976T>C , CM000667.1:g.140913976T>C	GRCh37
NC_000005.8:g.140894160T>C	NCBI36
NG_011594.1:g.89647A>G
NG_011594.2:g.89647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2507A>G MANE Select	ENSP00000373706.4:p.Glu836Gly
ENST00000647433.1:c.2507A>G	ENSP00000494675.1:p.Glu836Gly
ENST00000253811.10:c.2375A>G	ENSP00000253811.7:p.Glu792Gly
ENST00000389054.7:c.2507A>G	ENSP00000373706.4:p.Glu836Gly
ENST00000389057.9:c.2480A>G	ENSP00000373709.6:p.Glu827Gly
ENST00000398557.8:c.2507A>G	ENSP00000381565.5:p.Glu836Gly
ENST00000491754.5:n.102A>G
ENST00000494967.5:n.80A>G
ENST00000518047.5:c.2480A>G	ENSP00000428268.2:p.Glu827Gly
ENST00000518484.1:n.133A>G
NM_001079812.2:c.2480A>G	NP_001073280.1:p.Glu827Gly
NM_001314007.1:c.2507A>G	NP_001300936.1:p.Glu836Gly
NM_005219.4:c.2507A>G	NP_005210.3:p.Glu836Gly
XM_011537572.1:c.2471A>G	XP_011535874.1:p.Glu824Gly
XM_011537573.1:c.2441A>G	XP_011535875.1:p.Glu814Gly
XM_024454384.1:c.2507A>G	XP_024310152.1:p.Glu836Gly
XM_024454385.1:c.2480A>G	XP_024310153.1:p.Glu827Gly
XM_024454386.1:c.2471A>G	XP_024310154.1:p.Glu824Gly
XM_024454387.1:c.2441A>G	XP_024310155.1:p.Glu814Gly
NM_005219.5:c.2507A>G MANE Select	NP_005210.3:p.Glu836Gly
NM_001079812.3:c.2480A>G	NP_001073280.1:p.Glu827Gly
NM_001314007.2:c.2507A>G	NP_001300936.1:p.Glu836Gly