Canonical Allele Identifier: CA240726

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 194639
• ClinVar RCV Id: RCV000221724 ; RCV000724127 ; RCV001082786 ; RCV001151711 ; RCV003917622
• dbSNP Id: rs182139018
• ExAC: 5:140953681 C / T
• gnomAD v2: 5-140953681-C-T
• gnomAD v3: 5-141574114-C-T
• gnomAD v4: 5-141574114-C-T
• MyVariant Identifiers: chr5:g.140953681C>T (hg19) ; chr5:g.141574114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574114C>T , CM000667.2:g.141574114C>T	GRCh38
NC_000005.9:g.140953681C>T , CM000667.1:g.140953681C>T	GRCh37
NC_000005.8:g.140933865C>T	NCBI36
NG_011594.1:g.49942G>A
NG_011594.2:g.49942G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389054.8:c.1736G>A MANE Select	ENSP00000373706.4:p.Arg579His
ENST00000647330.1:c.1713G>A	ENSP00000494308.1:n.1713G>A
ENST00000647433.1:c.1736G>A	ENSP00000494675.1:p.Arg579His
ENST00000253811.10:c.1604G>A	ENSP00000253811.7:p.Arg535His
ENST00000389054.7:c.1736G>A	ENSP00000373706.4:p.Arg579His
ENST00000389057.9:c.1709G>A	ENSP00000373709.6:p.Arg570His
ENST00000398557.8:c.1736G>A	ENSP00000381565.5:p.Arg579His
ENST00000518047.5:c.1709G>A	ENSP00000428268.2:p.Arg570His
NM_001079812.2:c.1709G>A	NP_001073280.1:p.Arg570His
NM_001314007.1:c.1736G>A	NP_001300936.1:p.Arg579His
NM_005219.4:c.1736G>A	NP_005210.3:p.Arg579His
XM_011537572.1:c.1700G>A	XP_011535874.1:p.Arg567His
XM_011537573.1:c.1670G>A	XP_011535875.1:p.Arg557His
XM_024454384.1:c.1736G>A	XP_024310152.1:p.Arg579His
XM_024454385.1:c.1709G>A	XP_024310153.1:p.Arg570His
XM_024454386.1:c.1700G>A	XP_024310154.1:p.Arg567His
XM_024454387.1:c.1670G>A	XP_024310155.1:p.Arg557His
NM_005219.5:c.1736G>A MANE Select	NP_005210.3:p.Arg579His
NM_001079812.3:c.1709G>A	NP_001073280.1:p.Arg570His
NM_001314007.2:c.1736G>A	NP_001300936.1:p.Arg579His