Canonical Allele Identifier: CA3479301

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 351296
• ClinVar RCV Id: RCV000271037 ; RCV000437504 ; RCV000612807 ; RCV001081233
• dbSNP Id: rs193036129
• ExAC: 5:140955835 C / T
• gnomAD v2: 5-140955835-C-T
• gnomAD v3: 5-141576268-C-T
• gnomAD v4: 5-141576268-C-T
• MyVariant Identifiers: chr5:g.140955835C>T (hg19) ; chr5:g.141576268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141576268C>T , CM000667.2:g.141576268C>T	GRCh38
NC_000005.9:g.140955835C>T , CM000667.1:g.140955835C>T	GRCh37
NC_000005.8:g.140936019C>T	NCBI36
NG_011594.1:g.47788G>A
NG_011594.2:g.47788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389054.8:c.1423G>A MANE Select	ENSP00000373706.4:p.Glu475Lys
ENST00000647330.1:c.1400G>A	ENSP00000494308.1:n.1400G>A
ENST00000647433.1:c.1423G>A	ENSP00000494675.1:p.Glu475Lys
ENST00000253811.10:c.1291G>A	ENSP00000253811.7:p.Glu431Lys
ENST00000389054.7:c.1423G>A	ENSP00000373706.4:p.Glu475Lys
ENST00000389057.9:c.1396G>A	ENSP00000373709.6:p.Glu466Lys
ENST00000398557.8:c.1423G>A	ENSP00000381565.5:p.Glu475Lys
ENST00000518047.5:c.1396G>A	ENSP00000428268.2:p.Glu466Lys
NM_001079812.2:c.1396G>A	NP_001073280.1:p.Glu466Lys
NM_001314007.1:c.1423G>A	NP_001300936.1:p.Glu475Lys
NM_005219.4:c.1423G>A	NP_005210.3:p.Glu475Lys
XM_011537572.1:c.1387G>A	XP_011535874.1:p.Glu463Lys
XM_011537573.1:c.1357G>A	XP_011535875.1:p.Glu453Lys
XR_944362.1:n.28C>T
XM_024454384.1:c.1423G>A	XP_024310152.1:p.Glu475Lys
XM_024454385.1:c.1396G>A	XP_024310153.1:p.Glu466Lys
XM_024454386.1:c.1387G>A	XP_024310154.1:p.Glu463Lys
XM_024454387.1:c.1357G>A	XP_024310155.1:p.Glu453Lys
NM_005219.5:c.1423G>A MANE Select	NP_005210.3:p.Glu475Lys
NM_001079812.3:c.1396G>A	NP_001073280.1:p.Glu466Lys
NM_001314007.2:c.1423G>A	NP_001300936.1:p.Glu475Lys