Canonical Allele Identifier: CA128439427

Gene: DIAPH1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141577490T>A , CM000667.2:g.141577490T>A	GRCh38
NC_000005.9:g.140957057T>A , CM000667.1:g.140957057T>A	GRCh37
NC_000005.8:g.140937241T>A	NCBI36
NG_011594.1:g.46566A>T
NG_011594.2:g.46566A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1265A>T MANE Select	ENSP00000373706.4:p.Asn422Ile
ENST00000647330.1:c.1242A>T	ENSP00000494308.1:n.1242A>T
ENST00000647433.1:c.1265A>T	ENSP00000494675.1:p.Asn422Ile
ENST00000253811.10:c.1133A>T	ENSP00000253811.7:p.Asn378Ile
ENST00000389054.7:c.1265A>T	ENSP00000373706.4:p.Asn422Ile
ENST00000389057.9:c.1238A>T	ENSP00000373709.6:p.Asn413Ile
ENST00000398557.8:c.1265A>T	ENSP00000381565.5:p.Asn422Ile
ENST00000518047.5:c.1238A>T	ENSP00000428268.2:p.Asn413Ile
NM_001079812.2:c.1238A>T	NP_001073280.1:p.Asn413Ile
NM_001314007.1:c.1265A>T	NP_001300936.1:p.Asn422Ile
NM_005219.4:c.1265A>T	NP_005210.3:p.Asn422Ile
XM_011537572.1:c.1229A>T	XP_011535874.1:p.Asn410Ile
XM_011537573.1:c.1199A>T	XP_011535875.1:p.Asn400Ile
XR_944362.1:n.73+1177T>A
XM_024454384.1:c.1265A>T	XP_024310152.1:p.Asn422Ile
XM_024454385.1:c.1238A>T	XP_024310153.1:p.Asn413Ile
XM_024454386.1:c.1229A>T	XP_024310154.1:p.Asn410Ile
XM_024454387.1:c.1199A>T	XP_024310155.1:p.Asn400Ile
NM_005219.5:c.1265A>T MANE Select	NP_005210.3:p.Asn422Ile
NM_001079812.3:c.1238A>T	NP_001073280.1:p.Asn413Ile
NM_001314007.2:c.1265A>T	NP_001300936.1:p.Asn422Ile