Canonical Allele Identifier: CA3479378

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141578238G>A , CM000667.2:g.141578238G>A	GRCh38
NC_000005.9:g.140957805G>A , CM000667.1:g.140957805G>A	GRCh37
NC_000005.8:g.140937989G>A	NCBI36
NG_011594.1:g.45818C>T
NG_011594.2:g.45818C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.1150C>T MANE Select	NP_005210.3:p.Arg384Cys
ENST00000389054.8:c.1150C>T MANE Select	ENSP00000373706.4:p.Arg384Cys
NM_001079812.2:c.1123C>T	NP_001073280.1:p.Arg375Cys
NM_001079812.3:c.1123C>T	NP_001073280.1:p.Arg375Cys
NM_001314007.1:c.1150C>T	NP_001300936.1:p.Arg384Cys
NM_001314007.2:c.1150C>T	NP_001300936.1:p.Arg384Cys
NM_005219.4:c.1150C>T	NP_005210.3:p.Arg384Cys
ENST00000253811.10:c.1018C>T	ENSP00000253811.7:p.Arg340Cys
ENST00000389054.7:c.1150C>T	ENSP00000373706.4:p.Arg384Cys
ENST00000389057.9:c.1123C>T	ENSP00000373709.6:p.Arg375Cys
ENST00000398557.8:c.1150C>T	ENSP00000381565.5:p.Arg384Cys
ENST00000472516.1:n.259C>T
ENST00000518047.5:c.1123C>T	ENSP00000428268.2:p.Arg375Cys
ENST00000523100.5:c.*377C>T	ENSP00000428208.1:n.*377C>T
ENST00000647330.1:c.1127C>T	ENSP00000494308.1:n.1127C>T
ENST00000647433.1:c.1150C>T	ENSP00000494675.1:p.Arg384Cys
XM_011537572.1:c.1114C>T	XP_011535874.1:p.Arg372Cys
XM_011537573.1:c.1084C>T	XP_011535875.1:p.Arg362Cys
XM_024454384.1:c.1150C>T	XP_024310152.1:p.Arg384Cys
XM_024454385.1:c.1123C>T	XP_024310153.1:p.Arg375Cys
XM_024454386.1:c.1114C>T	XP_024310154.1:p.Arg372Cys
XM_024454387.1:c.1084C>T	XP_024310155.1:p.Arg362Cys
XR_944362.1:n.73+1925G>A