Canonical Allele Identifier: CA467286709

Gene: GLE1

Linked Data

• ClinVar Variation Id: 2702426
• ClinVar RCV Id: RCV003577343
• gnomAD v4: 9-128540287-C-T
• MyVariant Identifiers: chr9:g.131302566C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540287C>T , CM000671.2:g.128540287C>T	GRCh38
NC_000009.11:g.131302566C>T , CM000671.1:g.131302566C>T	GRCh37
NC_000009.10:g.130342387C>T	NCBI36
NG_012073.1:g.40596C>T , LRG_484:g.40596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1048C>T	ENSP00000507095.1:n.*1048C>T
ENST00000683288.1:c.*1976C>T	ENSP00000507477.1:n.*1976C>T
ENST00000683748.1:c.2004C>T	ENSP00000507377.1:p.Ile668=
ENST00000683905.1:c.*653C>T	ENSP00000506960.1:n.*653C>T
ENST00000684139.1:c.1512C>T	ENSP00000507295.1:p.Ile504=
ENST00000684210.1:n.1690C>T
ENST00000684314.1:c.1872C>T	ENSP00000507700.1:p.Ile624=
ENST00000684331.1:c.1977C>T	ENSP00000507431.1:p.Ile659=
ENST00000684463.1:n.615C>T
ENST00000684646.1:c.1764C>T	ENSP00000507723.1:p.Ile588=
ENST00000309971.9:c.1977C>T MANE Select	ENSP00000308622.5:p.Ile659=
ENST00000309971.8:c.1977C>T	ENSP00000308622.4:p.Ile659=
NM_001003722.1:c.1977C>T , LRG_484t1:c.1977C>T	NP_001003722.1:p.Ile659=
XM_006717059.2:c.2013C>T	XP_006717122.1:p.Ile671=
XM_006717060.2:c.1986C>T	XP_006717123.1:p.Ile662=
XM_011518549.1:c.2013C>T	XP_011516851.1:p.Ile671=
XM_011518550.1:c.2013C>T	XP_011516852.1:p.Ile671=
XM_011518551.1:c.2004C>T	XP_011516853.1:p.Ile668=
XM_011518552.1:c.1254C>T	XP_011516854.1:p.Ile418=
XR_242681.3:n.100+3092G>A
XR_428600.2:n.124+683G>A
XM_006717059.3:c.2013C>T	XP_006717122.1:p.Ile671=
XM_006717060.3:c.1986C>T	XP_006717123.1:p.Ile662=
XM_011518551.2:c.2004C>T	XP_011516853.1:p.Ile668=
XM_024447519.1:c.1986C>T	XP_024303287.1:p.Ile662=
XR_428600.3:n.126+683G>A
NM_001003722.2:c.1977C>T MANE Select	NP_001003722.1:p.Ile659=