Canonical Allele Identifier: CA3479173

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 351290
• ClinVar RCV Id: RCV000281485 ; RCV000652776 ; RCV001613157 ; RCV002520326 ; RCV003970019
• dbSNP Id: rs186370335
• ExAC: 5:140953385 G / A
• gnomAD v2: 5-140953385-G-A
• gnomAD v3: 5-141573818-G-A
• gnomAD v4: 5-141573818-G-A
• MyVariant Identifiers: chr5:g.140953385G>A (hg19) ; chr5:g.141573818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573818G>A , CM000667.2:g.141573818G>A	GRCh38
NC_000005.9:g.140953385G>A , CM000667.1:g.140953385G>A	GRCh37
NC_000005.8:g.140933569G>A	NCBI36
NG_011594.1:g.50238C>T
NG_011594.2:g.50238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2032C>T MANE Select	ENSP00000373706.4:p.Pro678Ser
ENST00000647433.1:c.2032C>T	ENSP00000494675.1:p.Pro678Ser
ENST00000253811.10:c.1900C>T	ENSP00000253811.7:p.Pro634Ser
ENST00000389054.7:c.2032C>T	ENSP00000373706.4:p.Pro678Ser
ENST00000389057.9:c.2005C>T	ENSP00000373709.6:p.Pro669Ser
ENST00000398557.8:c.2032C>T	ENSP00000381565.5:p.Pro678Ser
ENST00000518047.5:c.2005C>T	ENSP00000428268.2:p.Pro669Ser
NM_001079812.2:c.2005C>T	NP_001073280.1:p.Pro669Ser
NM_001314007.1:c.2032C>T	NP_001300936.1:p.Pro678Ser
NM_005219.4:c.2032C>T	NP_005210.3:p.Pro678Ser
XM_011537572.1:c.1996C>T	XP_011535874.1:p.Pro666Ser
XM_011537573.1:c.1966C>T	XP_011535875.1:p.Pro656Ser
XM_024454384.1:c.2032C>T	XP_024310152.1:p.Pro678Ser
XM_024454385.1:c.2005C>T	XP_024310153.1:p.Pro669Ser
XM_024454386.1:c.1996C>T	XP_024310154.1:p.Pro666Ser
XM_024454387.1:c.1966C>T	XP_024310155.1:p.Pro656Ser
NM_005219.5:c.2032C>T MANE Select	NP_005210.3:p.Pro678Ser
NM_001079812.3:c.2005C>T	NP_001073280.1:p.Pro669Ser
NM_001314007.2:c.2032C>T	NP_001300936.1:p.Pro678Ser