Canonical Allele Identifier: CA3478772

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141526121C>T , CM000667.2:g.141526121C>T	GRCh38
NC_000005.9:g.140905688C>T , CM000667.1:g.140905688C>T	GRCh37
NC_000005.8:g.140885872C>T	NCBI36
NG_011594.1:g.97935G>A
NG_011594.2:g.97935G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.3491G>A MANE Select	NP_005210.3:p.Arg1164Gln
ENST00000389054.8:c.3491G>A MANE Select	ENSP00000373706.4:p.Arg1164Gln
NM_001079812.2:c.3464G>A	NP_001073280.1:p.Arg1155Gln
NM_001079812.3:c.3464G>A	NP_001073280.1:p.Arg1155Gln
NM_001314007.1:c.3491G>A	NP_001300936.1:p.Arg1164Gln
NM_001314007.2:c.3491G>A	NP_001300936.1:p.Arg1164Gln
NM_005219.4:c.3491G>A	NP_005210.3:p.Arg1164Gln
ENST00000253811.10:c.3359G>A	ENSP00000253811.7:p.Arg1120Gln
ENST00000389054.7:c.3491G>A	ENSP00000373706.4:p.Arg1164Gln
ENST00000389057.9:c.3464G>A	ENSP00000373709.6:p.Arg1155Gln
ENST00000398557.8:c.3491G>A	ENSP00000381565.5:p.Arg1164Gln
ENST00000448451.5:c.27G>A
ENST00000518047.5:c.3464G>A	ENSP00000428268.2:p.Arg1155Gln
ENST00000647433.1:c.3491G>A	ENSP00000494675.1:p.Arg1164Gln
XM_011537572.1:c.3455G>A	XP_011535874.1:p.Arg1152Gln
XM_011537573.1:c.3425G>A	XP_011535875.1:p.Arg1142Gln
XM_024454384.1:c.3614G>A	XP_024310152.1:p.Arg1205Gln
XM_024454385.1:c.3587G>A	XP_024310153.1:p.Arg1196Gln
XM_024454386.1:c.3578G>A	XP_024310154.1:p.Arg1193Gln
XM_024454387.1:c.3548G>A	XP_024310155.1:p.Arg1183Gln