Canonical Allele Identifier: CA361519282
Gene: DIAPH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573850G>A , CM000667.2:g.141573850G>A GRCh38
NC_000005.9:g.140953417G>A , CM000667.1:g.140953417G>A GRCh37
NC_000005.8:g.140933601G>A NCBI36
NG_011594.1:g.50206C>T
NG_011594.2:g.50206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2000C>T MANE Select ENSP00000373706.4:p.Ser667Phe
ENST00000647433.1:c.2000C>T ENSP00000494675.1:p.Ser667Phe
ENST00000253811.10:c.1868C>T ENSP00000253811.7:p.Ser623Phe
ENST00000389054.7:c.2000C>T ENSP00000373706.4:p.Ser667Phe
ENST00000389057.9:c.1973C>T ENSP00000373709.6:p.Ser658Phe
ENST00000398557.8:c.2000C>T ENSP00000381565.5:p.Ser667Phe
ENST00000518047.5:c.1973C>T ENSP00000428268.2:p.Ser658Phe
NM_001079812.2:c.1973C>T NP_001073280.1:p.Ser658Phe
NM_001314007.1:c.2000C>T NP_001300936.1:p.Ser667Phe
NM_005219.4:c.2000C>T NP_005210.3:p.Ser667Phe
XM_011537572.1:c.1964C>T XP_011535874.1:p.Ser655Phe
XM_011537573.1:c.1934C>T XP_011535875.1:p.Ser645Phe
XM_024454384.1:c.2000C>T XP_024310152.1:p.Ser667Phe
XM_024454385.1:c.1973C>T XP_024310153.1:p.Ser658Phe
XM_024454386.1:c.1964C>T XP_024310154.1:p.Ser655Phe
XM_024454387.1:c.1934C>T XP_024310155.1:p.Ser645Phe
NM_005219.5:c.2000C>T MANE Select NP_005210.3:p.Ser667Phe
NM_001079812.3:c.1973C>T NP_001073280.1:p.Ser658Phe
NM_001314007.2:c.2000C>T NP_001300936.1:p.Ser667Phe