Canonical Allele Identifier: CA361575054

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903719G>T (hg19) ; chr5:g.141524152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524152G>T , CM000667.2:g.141524152G>T	GRCh38
NC_000005.9:g.140903719G>T , CM000667.1:g.140903719G>T	GRCh37
NC_000005.8:g.140883903G>T	NCBI36
NG_011594.1:g.99904C>A
NG_011594.2:g.99904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3652C>A MANE Select	ENSP00000373706.4:p.Pro1218Thr
ENST00000448451.6:c.58C>A	ENSP00000408159.2:p.Pro20Thr
ENST00000643312.1:c.58C>A	ENSP00000495191.1:p.Pro20Thr
ENST00000643718.1:n.132C>A
ENST00000647433.1:c.3652C>A	ENSP00000494675.1:p.Pro1218Thr
ENST00000253811.10:c.3520C>A	ENSP00000253811.7:p.Pro1174Thr
ENST00000389054.7:c.3652C>A	ENSP00000373706.4:p.Pro1218Thr
ENST00000389057.9:c.3625C>A	ENSP00000373709.6:p.Pro1209Thr
ENST00000398557.8:c.3652C>A	ENSP00000381565.5:p.Pro1218Thr
ENST00000448451.5:c.188C>A
ENST00000468119.3:n.173C>A
ENST00000476339.1:n.604C>A
ENST00000518047.5:c.3625C>A	ENSP00000428268.2:p.Pro1209Thr
NM_001079812.2:c.3625C>A	NP_001073280.1:p.Pro1209Thr
NM_001314007.1:c.3652C>A	NP_001300936.1:p.Pro1218Thr
NM_005219.4:c.3652C>A	NP_005210.3:p.Pro1218Thr
XM_011537572.1:c.3616C>A	XP_011535874.1:p.Pro1206Thr
XM_011537573.1:c.3586C>A	XP_011535875.1:p.Pro1196Thr
XM_024454384.1:c.3775C>A	XP_024310152.1:p.Pro1259Thr
XM_024454385.1:c.3748C>A	XP_024310153.1:p.Pro1250Thr
XM_024454386.1:c.3739C>A	XP_024310154.1:p.Pro1247Thr
XM_024454387.1:c.3709C>A	XP_024310155.1:p.Pro1237Thr
NM_005219.5:c.3652C>A MANE Select	NP_005210.3:p.Pro1218Thr
NM_001079812.3:c.3625C>A	NP_001073280.1:p.Pro1209Thr
NM_001314007.2:c.3652C>A	NP_001300936.1:p.Pro1218Thr