Canonical Allele Identifier: CA361519053
Gene: DIAPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517674
ClinVar RCV Id: RCV002027530
dbSNP Id: rs1596378879

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573827T>C , CM000667.2:g.141573827T>C GRCh38
NC_000005.9:g.140953394T>C , CM000667.1:g.140953394T>C GRCh37
NC_000005.8:g.140933578T>C NCBI36
NG_011594.1:g.50229A>G
NG_011594.2:g.50229A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2023A>G MANE Select ENSP00000373706.4:p.Ile675Val
ENST00000647433.1:c.2023A>G ENSP00000494675.1:p.Ile675Val
ENST00000253811.10:c.1891A>G ENSP00000253811.7:p.Ile631Val
ENST00000389054.7:c.2023A>G ENSP00000373706.4:p.Ile675Val
ENST00000389057.9:c.1996A>G ENSP00000373709.6:p.Ile666Val
ENST00000398557.8:c.2023A>G ENSP00000381565.5:p.Ile675Val
ENST00000518047.5:c.1996A>G ENSP00000428268.2:p.Ile666Val
NM_001079812.2:c.1996A>G NP_001073280.1:p.Ile666Val
NM_001314007.1:c.2023A>G NP_001300936.1:p.Ile675Val
NM_005219.4:c.2023A>G NP_005210.3:p.Ile675Val
XM_011537572.1:c.1987A>G XP_011535874.1:p.Ile663Val
XM_011537573.1:c.1957A>G XP_011535875.1:p.Ile653Val
XM_024454384.1:c.2023A>G XP_024310152.1:p.Ile675Val
XM_024454385.1:c.1996A>G XP_024310153.1:p.Ile666Val
XM_024454386.1:c.1987A>G XP_024310154.1:p.Ile663Val
XM_024454387.1:c.1957A>G XP_024310155.1:p.Ile653Val
NM_005219.5:c.2023A>G MANE Select NP_005210.3:p.Ile675Val
NM_001079812.3:c.1996A>G NP_001073280.1:p.Ile666Val
NM_001314007.2:c.2023A>G NP_001300936.1:p.Ile675Val