Canonical Allele Identifier: CA361520446

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 2201477
• ClinVar RCV Id: RCV002644397
• dbSNP Id: rs1329060473
• gnomAD v2: 5-140953546-C-T
• gnomAD v3: 5-141573979-C-T
• gnomAD v4: 5-141573979-C-T
• MyVariant Identifiers: chr5:g.140953546C>T (hg19) ; chr5:g.141573979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573979C>T , CM000667.2:g.141573979C>T	GRCh38
NC_000005.9:g.140953546C>T , CM000667.1:g.140953546C>T	GRCh37
NC_000005.8:g.140933730C>T	NCBI36
NG_011594.1:g.50077G>A
NG_011594.2:g.50077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1871G>A MANE Select	ENSP00000373706.4:p.Gly624Asp
ENST00000647433.1:c.1871G>A	ENSP00000494675.1:p.Gly624Asp
ENST00000253811.10:c.1739G>A	ENSP00000253811.7:p.Gly580Asp
ENST00000389054.7:c.1871G>A	ENSP00000373706.4:p.Gly624Asp
ENST00000389057.9:c.1844G>A	ENSP00000373709.6:p.Gly615Asp
ENST00000398557.8:c.1871G>A	ENSP00000381565.5:p.Gly624Asp
ENST00000518047.5:c.1844G>A	ENSP00000428268.2:p.Gly615Asp
NM_001079812.2:c.1844G>A	NP_001073280.1:p.Gly615Asp
NM_001314007.1:c.1871G>A	NP_001300936.1:p.Gly624Asp
NM_005219.4:c.1871G>A	NP_005210.3:p.Gly624Asp
XM_011537572.1:c.1835G>A	XP_011535874.1:p.Gly612Asp
XM_011537573.1:c.1805G>A	XP_011535875.1:p.Gly602Asp
XM_024454384.1:c.1871G>A	XP_024310152.1:p.Gly624Asp
XM_024454385.1:c.1844G>A	XP_024310153.1:p.Gly615Asp
XM_024454386.1:c.1835G>A	XP_024310154.1:p.Gly612Asp
XM_024454387.1:c.1805G>A	XP_024310155.1:p.Gly602Asp
NM_005219.5:c.1871G>A MANE Select	NP_005210.3:p.Gly624Asp
NM_001079812.3:c.1844G>A	NP_001073280.1:p.Gly615Asp
NM_001314007.2:c.1871G>A	NP_001300936.1:p.Gly624Asp