Canonical Allele Identifier: CA361542362

Gene: DIAPH1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141583605T>C , CM000667.2:g.141583605T>C	GRCh38
NC_000005.9:g.140963172T>C , CM000667.1:g.140963172T>C	GRCh37
NC_000005.8:g.140943356T>C	NCBI36
NG_011594.1:g.40451A>G
NG_011594.2:g.40451A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.413A>G MANE Select	ENSP00000373706.4:p.Gln138Arg
ENST00000647330.1:c.248A>G	ENSP00000494308.1:p.Gln83Arg
ENST00000647433.1:c.413A>G	ENSP00000494675.1:p.Gln138Arg
ENST00000253811.10:c.281A>G	ENSP00000253811.7:p.Gln94Arg
ENST00000389054.7:c.413A>G	ENSP00000373706.4:p.Gln138Arg
ENST00000389057.9:c.386A>G	ENSP00000373709.6:p.Gln129Arg
ENST00000398557.8:c.413A>G	ENSP00000381565.5:p.Gln138Arg
ENST00000518047.5:c.386A>G	ENSP00000428268.2:p.Gln129Arg
ENST00000523100.5:c.413A>G	ENSP00000428208.1:p.Gln138Arg
ENST00000524301.1:c.251A>G	ENSP00000430587.1:p.Gln84Arg
NM_001079812.2:c.386A>G	NP_001073280.1:p.Gln129Arg
NM_001314007.1:c.413A>G	NP_001300936.1:p.Gln138Arg
NM_005219.4:c.413A>G	NP_005210.3:p.Gln138Arg
XM_011537572.1:c.377A>G	XP_011535874.1:p.Gln126Arg
XM_011537573.1:c.347A>G	XP_011535875.1:p.Gln116Arg
XM_024454384.1:c.413A>G	XP_024310152.1:p.Gln138Arg
XM_024454385.1:c.386A>G	XP_024310153.1:p.Gln129Arg
XM_024454386.1:c.377A>G	XP_024310154.1:p.Gln126Arg
XM_024454387.1:c.347A>G	XP_024310155.1:p.Gln116Arg
NM_005219.5:c.413A>G MANE Select	NP_005210.3:p.Gln138Arg
NM_001079812.3:c.386A>G	NP_001073280.1:p.Gln129Arg
NM_001314007.2:c.413A>G	NP_001300936.1:p.Gln138Arg