Canonical Allele Identifier: CA467288862

Gene: GLE1

Linked Data

• dbSNP Id: rs1847873533
• MyVariant Identifiers: chr9:g.131303425G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541146G>T , CM000671.2:g.128541146G>T	GRCh38
NC_000009.11:g.131303425G>T , CM000671.1:g.131303425G>T	GRCh37
NC_000009.10:g.130343246G>T	NCBI36
NG_012073.1:g.41455G>T , LRG_484:g.41455G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1144G>T	ENSP00000507095.1:n.*1144G>T
ENST00000683288.1:c.*2072G>T	ENSP00000507477.1:n.*2072G>T
ENST00000683748.1:c.2100G>T	ENSP00000507377.1:p.Leu700=
ENST00000683905.1:c.*749G>T	ENSP00000506960.1:n.*749G>T
ENST00000684139.1:c.1608G>T	ENSP00000507295.1:p.Leu536=
ENST00000684210.1:n.1786G>T
ENST00000684314.1:c.1968G>T	ENSP00000507700.1:p.Leu656=
ENST00000684331.1:c.*793G>T	ENSP00000507431.1:n.*793G>T
ENST00000684463.1:n.711G>T
ENST00000684646.1:c.1860G>T	ENSP00000507723.1:p.Leu620=
ENST00000309971.9:c.2073G>T MANE Select	ENSP00000308622.5:p.Leu691=
ENST00000309971.8:c.2073G>T	ENSP00000308622.4:p.Leu691=
NM_001003722.1:c.2073G>T , LRG_484t1:c.2073G>T	NP_001003722.1:p.Leu691=
XM_006717059.2:c.2109G>T	XP_006717122.1:p.Leu703=
XM_006717060.2:c.2082G>T	XP_006717123.1:p.Leu694=
XM_011518549.1:c.2109G>T	XP_011516851.1:p.Leu703=
XM_011518550.1:c.2109G>T	XP_011516852.1:p.Leu703=
XM_011518551.1:c.2100G>T	XP_011516853.1:p.Leu700=
XM_011518552.1:c.1350G>T	XP_011516854.1:p.Leu450=
XR_242681.3:n.100+2233C>A
XM_006717059.3:c.2109G>T	XP_006717122.1:p.Leu703=
XM_006717060.3:c.2082G>T	XP_006717123.1:p.Leu694=
XM_011518551.2:c.2100G>T	XP_011516853.1:p.Leu700=
XM_024447519.1:c.2082G>T	XP_024303287.1:p.Leu694=
NM_001003722.2:c.2073G>T MANE Select	NP_001003722.1:p.Leu691=