Canonical Allele Identifier: CA361519213
Gene: DIAPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 689603
dbSNP Id: rs1284785470

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573843C>A , CM000667.2:g.141573843C>A GRCh38
NC_000005.9:g.140953410C>A , CM000667.1:g.140953410C>A GRCh37
NC_000005.8:g.140933594C>A NCBI36
NG_011594.1:g.50213G>T
NG_011594.2:g.50213G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2007G>T MANE Select ENSP00000373706.4:p.Leu669Phe
ENST00000647433.1:c.2007G>T ENSP00000494675.1:p.Leu669Phe
ENST00000253811.10:c.1875G>T ENSP00000253811.7:p.Leu625Phe
ENST00000389054.7:c.2007G>T ENSP00000373706.4:p.Leu669Phe
ENST00000389057.9:c.1980G>T ENSP00000373709.6:p.Leu660Phe
ENST00000398557.8:c.2007G>T ENSP00000381565.5:p.Leu669Phe
ENST00000518047.5:c.1980G>T ENSP00000428268.2:p.Leu660Phe
NM_001079812.2:c.1980G>T NP_001073280.1:p.Leu660Phe
NM_001314007.1:c.2007G>T NP_001300936.1:p.Leu669Phe
NM_005219.4:c.2007G>T NP_005210.3:p.Leu669Phe
XM_011537572.1:c.1971G>T XP_011535874.1:p.Leu657Phe
XM_011537573.1:c.1941G>T XP_011535875.1:p.Leu647Phe
XM_024454384.1:c.2007G>T XP_024310152.1:p.Leu669Phe
XM_024454385.1:c.1980G>T XP_024310153.1:p.Leu660Phe
XM_024454386.1:c.1971G>T XP_024310154.1:p.Leu657Phe
XM_024454387.1:c.1941G>T XP_024310155.1:p.Leu647Phe
NM_005219.5:c.2007G>T MANE Select NP_005210.3:p.Leu669Phe
NM_001079812.3:c.1980G>T NP_001073280.1:p.Leu660Phe
NM_001314007.2:c.2007G>T NP_001300936.1:p.Leu669Phe