Canonical Allele Identifier: CA361518657

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 2945389
• ClinVar RCV Id: RCV003801043
• dbSNP Id: rs1461203802
• gnomAD v4: 5-141573794-T-C
• MyVariant Identifiers: chr5:g.140953361T>C (hg19) ; chr5:g.141573794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573794T>C , CM000667.2:g.141573794T>C	GRCh38
NC_000005.9:g.140953361T>C , CM000667.1:g.140953361T>C	GRCh37
NC_000005.8:g.140933545T>C	NCBI36
NG_011594.1:g.50262A>G
NG_011594.2:g.50262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2056A>G MANE Select	ENSP00000373706.4:p.Arg686Gly
ENST00000647433.1:c.2056A>G	ENSP00000494675.1:p.Arg686Gly
ENST00000253811.10:c.1924A>G	ENSP00000253811.7:p.Arg642Gly
ENST00000389054.7:c.2056A>G	ENSP00000373706.4:p.Arg686Gly
ENST00000389057.9:c.2029A>G	ENSP00000373709.6:p.Arg677Gly
ENST00000398557.8:c.2056A>G	ENSP00000381565.5:p.Arg686Gly
ENST00000518047.5:c.2029A>G	ENSP00000428268.2:p.Arg677Gly
NM_001079812.2:c.2029A>G	NP_001073280.1:p.Arg677Gly
NM_001314007.1:c.2056A>G	NP_001300936.1:p.Arg686Gly
NM_005219.4:c.2056A>G	NP_005210.3:p.Arg686Gly
XM_011537572.1:c.2020A>G	XP_011535874.1:p.Arg674Gly
XM_011537573.1:c.1990A>G	XP_011535875.1:p.Arg664Gly
XM_024454384.1:c.2056A>G	XP_024310152.1:p.Arg686Gly
XM_024454385.1:c.2029A>G	XP_024310153.1:p.Arg677Gly
XM_024454386.1:c.2020A>G	XP_024310154.1:p.Arg674Gly
XM_024454387.1:c.1990A>G	XP_024310155.1:p.Arg664Gly
NM_005219.5:c.2056A>G MANE Select	NP_005210.3:p.Arg686Gly
NM_001079812.3:c.2029A>G	NP_001073280.1:p.Arg677Gly
NM_001314007.2:c.2056A>G	NP_001300936.1:p.Arg686Gly