Canonical Allele Identifier: CA16604818
Gene: DIAPH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141528926G>A , CM000667.2:g.141528926G>A GRCh38
NC_000005.9:g.140908493G>A , CM000667.1:g.140908493G>A GRCh37
NC_000005.8:g.140888677G>A NCBI36
NG_011594.1:g.95130C>T
NG_011594.2:g.95130C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2794C>T MANE Select ENSP00000373706.4:p.Arg932Ter
ENST00000647433.1:c.2794C>T ENSP00000494675.1:p.Arg932Ter
ENST00000253811.10:c.2662C>T ENSP00000253811.7:p.Arg888Ter
ENST00000389054.7:c.2794C>T ENSP00000373706.4:p.Arg932Ter
ENST00000389057.9:c.2767C>T ENSP00000373709.6:p.Arg923Ter
ENST00000398557.8:c.2794C>T ENSP00000381565.5:p.Arg932Ter
ENST00000491754.5:n.294C>T
ENST00000494967.5:n.367C>T
ENST00000518047.5:c.2767C>T ENSP00000428268.2:p.Arg923Ter
ENST00000518484.1:n.420C>T
NM_001079812.2:c.2767C>T NP_001073280.1:p.Arg923Ter
NM_001314007.1:c.2794C>T NP_001300936.1:p.Arg932Ter
NM_005219.4:c.2794C>T NP_005210.3:p.Arg932Ter
XM_011537572.1:c.2758C>T XP_011535874.1:p.Arg920Ter
XM_011537573.1:c.2728C>T XP_011535875.1:p.Arg910Ter
XM_024454384.1:c.2794C>T XP_024310152.1:p.Arg932Ter
XM_024454385.1:c.2767C>T XP_024310153.1:p.Arg923Ter
XM_024454386.1:c.2758C>T XP_024310154.1:p.Arg920Ter
XM_024454387.1:c.2728C>T XP_024310155.1:p.Arg910Ter
NM_005219.5:c.2794C>T MANE Select NP_005210.3:p.Arg932Ter
NM_001079812.3:c.2767C>T NP_001073280.1:p.Arg923Ter
NM_001314007.2:c.2794C>T NP_001300936.1:p.Arg932Ter
Search 100 bp 5'
Search 100 bp 3'