Canonical Allele Identifier: CA3479174

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 850652
• ClinVar RCV Id: RCV001054865 ; RCV003160438
• dbSNP Id: rs761912885
• ExAC: 5:140953387 G / T
• gnomAD v2: 5-140953387-G-T
• gnomAD v3: 5-141573820-G-T
• gnomAD v4: 5-141573820-G-T
• MyVariant Identifiers: chr5:g.140953387G>T (hg19) ; chr5:g.141573820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573820G>T , CM000667.2:g.141573820G>T	GRCh38
NC_000005.9:g.140953387G>T , CM000667.1:g.140953387G>T	GRCh37
NC_000005.8:g.140933571G>T	NCBI36
NG_011594.1:g.50236C>A
NG_011594.2:g.50236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2030C>A MANE Select	ENSP00000373706.4:p.Pro677Gln
ENST00000647433.1:c.2030C>A	ENSP00000494675.1:p.Pro677Gln
ENST00000253811.10:c.1898C>A	ENSP00000253811.7:p.Pro633Gln
ENST00000389054.7:c.2030C>A	ENSP00000373706.4:p.Pro677Gln
ENST00000389057.9:c.2003C>A	ENSP00000373709.6:p.Pro668Gln
ENST00000398557.8:c.2030C>A	ENSP00000381565.5:p.Pro677Gln
ENST00000518047.5:c.2003C>A	ENSP00000428268.2:p.Pro668Gln
NM_001079812.2:c.2003C>A	NP_001073280.1:p.Pro668Gln
NM_001314007.1:c.2030C>A	NP_001300936.1:p.Pro677Gln
NM_005219.4:c.2030C>A	NP_005210.3:p.Pro677Gln
XM_011537572.1:c.1994C>A	XP_011535874.1:p.Pro665Gln
XM_011537573.1:c.1964C>A	XP_011535875.1:p.Pro655Gln
XM_024454384.1:c.2030C>A	XP_024310152.1:p.Pro677Gln
XM_024454385.1:c.2003C>A	XP_024310153.1:p.Pro668Gln
XM_024454386.1:c.1994C>A	XP_024310154.1:p.Pro665Gln
XM_024454387.1:c.1964C>A	XP_024310155.1:p.Pro655Gln
NM_005219.5:c.2030C>A MANE Select	NP_005210.3:p.Pro677Gln
NM_001079812.3:c.2003C>A	NP_001073280.1:p.Pro668Gln
NM_001314007.2:c.2030C>A	NP_001300936.1:p.Pro677Gln