Canonical Allele Identifier: CA361571882

Gene: DIAPH1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141516889G>A , CM000667.2:g.141516889G>A	GRCh38
NC_000005.9:g.140896456G>A , CM000667.1:g.140896456G>A	GRCh37
NC_000005.8:g.140876640G>A	NCBI36
NG_011594.1:g.107167C>T
NG_011594.2:g.107167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3781C>T MANE Select	ENSP00000373706.4:p.Leu1261Phe
ENST00000448451.6:c.187C>T	ENSP00000408159.2:p.Leu63Phe
ENST00000643312.1:c.187C>T	ENSP00000495191.1:p.Leu63Phe
ENST00000643718.1:n.412C>T
ENST00000647433.1:c.*81C>T	ENSP00000494675.1:n.*81C>T
ENST00000253811.10:c.3649C>T	ENSP00000253811.7:p.Leu1217Phe
ENST00000389054.7:c.3781C>T	ENSP00000373706.4:p.Leu1261Phe
ENST00000389057.9:c.3754C>T	ENSP00000373709.6:p.Leu1252Phe
ENST00000398557.8:c.3781C>T	ENSP00000381565.5:p.Leu1261Phe
ENST00000448451.5:c.370C>T
ENST00000468119.3:n.302C>T
ENST00000476339.1:n.733C>T
ENST00000518047.5:c.3754C>T	ENSP00000428268.2:p.Leu1252Phe
NM_001079812.2:c.3754C>T	NP_001073280.1:p.Leu1252Phe
NM_001314007.1:c.*81C>T	NP_001300936.1:n.*81C>T
NM_005219.4:c.3781C>T	NP_005210.3:p.Leu1261Phe
XM_011537572.1:c.3745C>T	XP_011535874.1:p.Leu1249Phe
XM_011537573.1:c.3715C>T	XP_011535875.1:p.Leu1239Phe
XM_024454384.1:c.3904C>T	XP_024310152.1:p.Leu1302Phe
XM_024454385.1:c.3877C>T	XP_024310153.1:p.Leu1293Phe
XM_024454386.1:c.3868C>T	XP_024310154.1:p.Leu1290Phe
XM_024454387.1:c.3838C>T	XP_024310155.1:p.Leu1280Phe
NM_005219.5:c.3781C>T MANE Select	NP_005210.3:p.Leu1261Phe
NM_001079812.3:c.3754C>T	NP_001073280.1:p.Leu1252Phe
NM_001314007.2:c.*81C>T	NP_001300936.1:n.*81C>T