Canonical Allele Identifier: CA361571683

Gene: DIAPH1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141516861C>A , CM000667.2:g.141516861C>A	GRCh38
NC_000005.9:g.140896428C>A , CM000667.1:g.140896428C>A	GRCh37
NC_000005.8:g.140876612C>A	NCBI36
NG_011594.1:g.107195G>T
NG_011594.2:g.107195G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3809G>T MANE Select	ENSP00000373706.4:p.Arg1270Leu
ENST00000448451.6:c.215G>T	ENSP00000408159.2:p.Arg72Leu
ENST00000643312.1:c.215G>T	ENSP00000495191.1:p.Arg72Leu
ENST00000643718.1:n.440G>T
ENST00000647433.1:c.*109G>T	ENSP00000494675.1:n.*109G>T
ENST00000253811.10:c.3677G>T	ENSP00000253811.7:p.Arg1226Leu
ENST00000389054.7:c.3809G>T	ENSP00000373706.4:p.Arg1270Leu
ENST00000389057.9:c.3782G>T	ENSP00000373709.6:p.Arg1261Leu
ENST00000398557.8:c.3809G>T	ENSP00000381565.5:p.Arg1270Leu
ENST00000448451.5:c.398G>T
ENST00000468119.3:n.330G>T
ENST00000476339.1:n.761G>T
ENST00000518047.5:c.3782G>T	ENSP00000428268.2:p.Arg1261Leu
NM_001079812.2:c.3782G>T	NP_001073280.1:p.Arg1261Leu
NM_001314007.1:c.*109G>T	NP_001300936.1:n.*109G>T
NM_005219.4:c.3809G>T	NP_005210.3:p.Arg1270Leu
XM_011537572.1:c.3773G>T	XP_011535874.1:p.Arg1258Leu
XM_011537573.1:c.3743G>T	XP_011535875.1:p.Arg1248Leu
XM_024454384.1:c.3932G>T	XP_024310152.1:p.Arg1311Leu
XM_024454385.1:c.3905G>T	XP_024310153.1:p.Arg1302Leu
XM_024454386.1:c.3896G>T	XP_024310154.1:p.Arg1299Leu
XM_024454387.1:c.3866G>T	XP_024310155.1:p.Arg1289Leu
NM_005219.5:c.3809G>T MANE Select	NP_005210.3:p.Arg1270Leu
NM_001079812.3:c.3782G>T	NP_001073280.1:p.Arg1261Leu
NM_001314007.2:c.*109G>T	NP_001300936.1:n.*109G>T