Canonical Allele Identifier: CA361575057

Gene: DIAPH1

Linked Data

• COSMIC: COSM6284592
• MyVariant Identifiers: chr5:g.140903721C>T (hg19) ; chr5:g.141524154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524154C>T , CM000667.2:g.141524154C>T	GRCh38
NC_000005.9:g.140903721C>T , CM000667.1:g.140903721C>T	GRCh37
NC_000005.8:g.140883905C>T	NCBI36
NG_011594.1:g.99902G>A
NG_011594.2:g.99902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3650G>A MANE Select	ENSP00000373706.4:p.Gly1217Glu
ENST00000448451.6:c.56G>A	ENSP00000408159.2:p.Gly19Glu
ENST00000643312.1:c.56G>A	ENSP00000495191.1:p.Gly19Glu
ENST00000643718.1:n.130G>A
ENST00000647433.1:c.3650G>A	ENSP00000494675.1:p.Gly1217Glu
ENST00000253811.10:c.3518G>A	ENSP00000253811.7:p.Gly1173Glu
ENST00000389054.7:c.3650G>A	ENSP00000373706.4:p.Gly1217Glu
ENST00000389057.9:c.3623G>A	ENSP00000373709.6:p.Gly1208Glu
ENST00000398557.8:c.3650G>A	ENSP00000381565.5:p.Gly1217Glu
ENST00000448451.5:c.186G>A
ENST00000468119.3:n.171G>A
ENST00000476339.1:n.602G>A
ENST00000518047.5:c.3623G>A	ENSP00000428268.2:p.Gly1208Glu
NM_001079812.2:c.3623G>A	NP_001073280.1:p.Gly1208Glu
NM_001314007.1:c.3650G>A	NP_001300936.1:p.Gly1217Glu
NM_005219.4:c.3650G>A	NP_005210.3:p.Gly1217Glu
XM_011537572.1:c.3614G>A	XP_011535874.1:p.Gly1205Glu
XM_011537573.1:c.3584G>A	XP_011535875.1:p.Gly1195Glu
XM_024454384.1:c.3773G>A	XP_024310152.1:p.Gly1258Glu
XM_024454385.1:c.3746G>A	XP_024310153.1:p.Gly1249Glu
XM_024454386.1:c.3737G>A	XP_024310154.1:p.Gly1246Glu
XM_024454387.1:c.3707G>A	XP_024310155.1:p.Gly1236Glu
NM_005219.5:c.3650G>A MANE Select	NP_005210.3:p.Gly1217Glu
NM_001079812.3:c.3623G>A	NP_001073280.1:p.Gly1208Glu
NM_001314007.2:c.3650G>A	NP_001300936.1:p.Gly1217Glu