Canonical Allele Identifier: CA361575081

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141524155-C-T
• MyVariant Identifiers: chr5:g.140903722C>T (hg19) ; chr5:g.141524155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524155C>T , CM000667.2:g.141524155C>T	GRCh38
NC_000005.9:g.140903722C>T , CM000667.1:g.140903722C>T	GRCh37
NC_000005.8:g.140883906C>T	NCBI36
NG_011594.1:g.99901G>A
NG_011594.2:g.99901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3649G>A MANE Select	ENSP00000373706.4:p.Gly1217Arg
ENST00000448451.6:c.55G>A	ENSP00000408159.2:p.Gly19Arg
ENST00000643312.1:c.55G>A	ENSP00000495191.1:p.Gly19Arg
ENST00000643718.1:n.129G>A
ENST00000647433.1:c.3649G>A	ENSP00000494675.1:p.Gly1217Arg
ENST00000253811.10:c.3517G>A	ENSP00000253811.7:p.Gly1173Arg
ENST00000389054.7:c.3649G>A	ENSP00000373706.4:p.Gly1217Arg
ENST00000389057.9:c.3622G>A	ENSP00000373709.6:p.Gly1208Arg
ENST00000398557.8:c.3649G>A	ENSP00000381565.5:p.Gly1217Arg
ENST00000448451.5:c.185G>A
ENST00000468119.3:n.170G>A
ENST00000476339.1:n.601G>A
ENST00000518047.5:c.3622G>A	ENSP00000428268.2:p.Gly1208Arg
NM_001079812.2:c.3622G>A	NP_001073280.1:p.Gly1208Arg
NM_001314007.1:c.3649G>A	NP_001300936.1:p.Gly1217Arg
NM_005219.4:c.3649G>A	NP_005210.3:p.Gly1217Arg
XM_011537572.1:c.3613G>A	XP_011535874.1:p.Gly1205Arg
XM_011537573.1:c.3583G>A	XP_011535875.1:p.Gly1195Arg
XM_024454384.1:c.3772G>A	XP_024310152.1:p.Gly1258Arg
XM_024454385.1:c.3745G>A	XP_024310153.1:p.Gly1249Arg
XM_024454386.1:c.3736G>A	XP_024310154.1:p.Gly1246Arg
XM_024454387.1:c.3706G>A	XP_024310155.1:p.Gly1236Arg
NM_005219.5:c.3649G>A MANE Select	NP_005210.3:p.Gly1217Arg
NM_001079812.3:c.3622G>A	NP_001073280.1:p.Gly1208Arg
NM_001314007.2:c.3649G>A	NP_001300936.1:p.Gly1217Arg