Canonical Allele Identifier: CA447088234

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 2935587
• ClinVar RCV Id: RCV003793681
• dbSNP Id: rs1284785470
• gnomAD v2: 5-140953410-C-T
• gnomAD v3: 5-141573843-C-T
• gnomAD v4: 5-141573843-C-T
• MyVariant Identifiers: chr5:g.140953410C>T (hg19) ; chr5:g.141573843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573843C>T , CM000667.2:g.141573843C>T	GRCh38
NC_000005.9:g.140953410C>T , CM000667.1:g.140953410C>T	GRCh37
NC_000005.8:g.140933594C>T	NCBI36
NG_011594.1:g.50213G>A
NG_011594.2:g.50213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2007G>A MANE Select	ENSP00000373706.4:p.Leu669=
ENST00000647433.1:c.2007G>A	ENSP00000494675.1:p.Leu669=
ENST00000253811.10:c.1875G>A	ENSP00000253811.7:p.Leu625=
ENST00000389054.7:c.2007G>A	ENSP00000373706.4:p.Leu669=
ENST00000389057.9:c.1980G>A	ENSP00000373709.6:p.Leu660=
ENST00000398557.8:c.2007G>A	ENSP00000381565.5:p.Leu669=
ENST00000518047.5:c.1980G>A	ENSP00000428268.2:p.Leu660=
NM_001079812.2:c.1980G>A	NP_001073280.1:p.Leu660=
NM_001314007.1:c.2007G>A	NP_001300936.1:p.Leu669=
NM_005219.4:c.2007G>A	NP_005210.3:p.Leu669=
XM_011537572.1:c.1971G>A	XP_011535874.1:p.Leu657=
XM_011537573.1:c.1941G>A	XP_011535875.1:p.Leu647=
XM_024454384.1:c.2007G>A	XP_024310152.1:p.Leu669=
XM_024454385.1:c.1980G>A	XP_024310153.1:p.Leu660=
XM_024454386.1:c.1971G>A	XP_024310154.1:p.Leu657=
XM_024454387.1:c.1941G>A	XP_024310155.1:p.Leu647=
NM_005219.5:c.2007G>A MANE Select	NP_005210.3:p.Leu669=
NM_001079812.3:c.1980G>A	NP_001073280.1:p.Leu660=
NM_001314007.2:c.2007G>A	NP_001300936.1:p.Leu669=