Canonical Allele Identifier: CA361518615
Gene: DIAPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1332396631

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573790A>G , CM000667.2:g.141573790A>G GRCh38
NC_000005.9:g.140953357A>G , CM000667.1:g.140953357A>G GRCh37
NC_000005.8:g.140933541A>G NCBI36
NG_011594.1:g.50266T>C
NG_011594.2:g.50266T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2060T>C MANE Select ENSP00000373706.4:p.Ile687Thr
ENST00000647433.1:c.2060T>C ENSP00000494675.1:p.Ile687Thr
ENST00000253811.10:c.1928T>C ENSP00000253811.7:p.Ile643Thr
ENST00000389054.7:c.2060T>C ENSP00000373706.4:p.Ile687Thr
ENST00000389057.9:c.2033T>C ENSP00000373709.6:p.Ile678Thr
ENST00000398557.8:c.2060T>C ENSP00000381565.5:p.Ile687Thr
ENST00000518047.5:c.2033T>C ENSP00000428268.2:p.Ile678Thr
NM_001079812.2:c.2033T>C NP_001073280.1:p.Ile678Thr
NM_001314007.1:c.2060T>C NP_001300936.1:p.Ile687Thr
NM_005219.4:c.2060T>C NP_005210.3:p.Ile687Thr
XM_011537572.1:c.2024T>C XP_011535874.1:p.Ile675Thr
XM_011537573.1:c.1994T>C XP_011535875.1:p.Ile665Thr
XM_024454384.1:c.2060T>C XP_024310152.1:p.Ile687Thr
XM_024454385.1:c.2033T>C XP_024310153.1:p.Ile678Thr
XM_024454386.1:c.2024T>C XP_024310154.1:p.Ile675Thr
XM_024454387.1:c.1994T>C XP_024310155.1:p.Ile665Thr
NM_005219.5:c.2060T>C MANE Select NP_005210.3:p.Ile687Thr
NM_001079812.3:c.2033T>C NP_001073280.1:p.Ile678Thr
NM_001314007.2:c.2060T>C NP_001300936.1:p.Ile687Thr