Canonical Allele Identifier: CA361575004

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1716941
• ClinVar RCV Id: RCV002296149 ; RCV003102251
• gnomAD v4: 5-141524145-T-C
• MyVariant Identifiers: chr5:g.140903712T>C (hg19) ; chr5:g.141524145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524145T>C , CM000667.2:g.141524145T>C	GRCh38
NC_000005.9:g.140903712T>C , CM000667.1:g.140903712T>C	GRCh37
NC_000005.8:g.140883896T>C	NCBI36
NG_011594.1:g.99911A>G
NG_011594.2:g.99911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3659A>G MANE Select	ENSP00000373706.4:p.Gln1220Arg
ENST00000448451.6:c.65A>G	ENSP00000408159.2:p.Gln22Arg
ENST00000643312.1:c.65A>G	ENSP00000495191.1:p.Gln22Arg
ENST00000643718.1:n.139A>G
ENST00000647433.1:c.3659A>G	ENSP00000494675.1:p.Gln1220Arg
ENST00000253811.10:c.3527A>G	ENSP00000253811.7:p.Gln1176Arg
ENST00000389054.7:c.3659A>G	ENSP00000373706.4:p.Gln1220Arg
ENST00000389057.9:c.3632A>G	ENSP00000373709.6:p.Gln1211Arg
ENST00000398557.8:c.3659A>G	ENSP00000381565.5:p.Gln1220Arg
ENST00000448451.5:c.195A>G
ENST00000468119.3:n.180A>G
ENST00000476339.1:n.611A>G
ENST00000518047.5:c.3632A>G	ENSP00000428268.2:p.Gln1211Arg
NM_001079812.2:c.3632A>G	NP_001073280.1:p.Gln1211Arg
NM_001314007.1:c.3659A>G	NP_001300936.1:p.Gln1220Arg
NM_005219.4:c.3659A>G	NP_005210.3:p.Gln1220Arg
XM_011537572.1:c.3623A>G	XP_011535874.1:p.Gln1208Arg
XM_011537573.1:c.3593A>G	XP_011535875.1:p.Gln1198Arg
XM_024454384.1:c.3782A>G	XP_024310152.1:p.Gln1261Arg
XM_024454385.1:c.3755A>G	XP_024310153.1:p.Gln1252Arg
XM_024454386.1:c.3746A>G	XP_024310154.1:p.Gln1249Arg
XM_024454387.1:c.3716A>G	XP_024310155.1:p.Gln1239Arg
NM_005219.5:c.3659A>G MANE Select	NP_005210.3:p.Gln1220Arg
NM_001079812.3:c.3632A>G	NP_001073280.1:p.Gln1211Arg
NM_001314007.2:c.3659A>G	NP_001300936.1:p.Gln1220Arg