Canonical Allele Identifier: CA3478779

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141526149G>A , CM000667.2:g.141526149G>A	GRCh38
NC_000005.9:g.140905716G>A , CM000667.1:g.140905716G>A	GRCh37
NC_000005.8:g.140885900G>A	NCBI36
NG_011594.1:g.97907C>T
NG_011594.2:g.97907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3463C>T MANE Select	ENSP00000373706.4:p.Arg1155Trp
ENST00000647433.1:c.3463C>T	ENSP00000494675.1:p.Arg1155Trp
ENST00000253811.10:c.3331C>T	ENSP00000253811.7:p.Arg1111Trp
ENST00000389054.7:c.3463C>T	ENSP00000373706.4:p.Arg1155Trp
ENST00000389057.9:c.3436C>T	ENSP00000373709.6:p.Arg1146Trp
ENST00000398557.8:c.3463C>T	ENSP00000381565.5:p.Arg1155Trp
ENST00000518047.5:c.3436C>T	ENSP00000428268.2:p.Arg1146Trp
NM_001079812.2:c.3436C>T	NP_001073280.1:p.Arg1146Trp
NM_001314007.1:c.3463C>T	NP_001300936.1:p.Arg1155Trp
NM_005219.4:c.3463C>T	NP_005210.3:p.Arg1155Trp
XM_011537572.1:c.3427C>T	XP_011535874.1:p.Arg1143Trp
XM_011537573.1:c.3397C>T	XP_011535875.1:p.Arg1133Trp
XM_024454384.1:c.3586C>T	XP_024310152.1:p.Arg1196Trp
XM_024454385.1:c.3559C>T	XP_024310153.1:p.Arg1187Trp
XM_024454386.1:c.3550C>T	XP_024310154.1:p.Arg1184Trp
XM_024454387.1:c.3520C>T	XP_024310155.1:p.Arg1174Trp
NM_005219.5:c.3463C>T MANE Select	NP_005210.3:p.Arg1155Trp
NM_001079812.3:c.3436C>T	NP_001073280.1:p.Arg1146Trp
NM_001314007.2:c.3463C>T	NP_001300936.1:p.Arg1155Trp