Canonical Allele Identifier: CA467288849

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541137-G-A
• MyVariant Identifiers: chr9:g.131303416G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541137G>A , CM000671.2:g.128541137G>A	GRCh38
NC_000009.11:g.131303416G>A , CM000671.1:g.131303416G>A	GRCh37
NC_000009.10:g.130343237G>A	NCBI36
NG_012073.1:g.41446G>A , LRG_484:g.41446G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1135G>A	ENSP00000507095.1:n.*1135G>A
ENST00000683288.1:c.*2063G>A	ENSP00000507477.1:n.*2063G>A
ENST00000683748.1:c.2091G>A	ENSP00000507377.1:p.Lys697=
ENST00000683905.1:c.*740G>A	ENSP00000506960.1:n.*740G>A
ENST00000684139.1:c.1599G>A	ENSP00000507295.1:p.Lys533=
ENST00000684210.1:n.1777G>A
ENST00000684314.1:c.1959G>A	ENSP00000507700.1:p.Lys653=
ENST00000684331.1:c.*784G>A	ENSP00000507431.1:n.*784G>A
ENST00000684463.1:n.702G>A
ENST00000684646.1:c.1851G>A	ENSP00000507723.1:p.Lys617=
ENST00000309971.9:c.2064G>A MANE Select	ENSP00000308622.5:p.Lys688=
ENST00000309971.8:c.2064G>A	ENSP00000308622.4:p.Lys688=
NM_001003722.1:c.2064G>A , LRG_484t1:c.2064G>A	NP_001003722.1:p.Lys688=
XM_006717059.2:c.2100G>A	XP_006717122.1:p.Lys700=
XM_006717060.2:c.2073G>A	XP_006717123.1:p.Lys691=
XM_011518549.1:c.2100G>A	XP_011516851.1:p.Lys700=
XM_011518550.1:c.2100G>A	XP_011516852.1:p.Lys700=
XM_011518551.1:c.2091G>A	XP_011516853.1:p.Lys697=
XM_011518552.1:c.1341G>A	XP_011516854.1:p.Lys447=
XR_242681.3:n.100+2242C>T
XM_006717059.3:c.2100G>A	XP_006717122.1:p.Lys700=
XM_006717060.3:c.2073G>A	XP_006717123.1:p.Lys691=
XM_011518551.2:c.2091G>A	XP_011516853.1:p.Lys697=
XM_024447519.1:c.2073G>A	XP_024303287.1:p.Lys691=
NM_001003722.2:c.2064G>A MANE Select	NP_001003722.1:p.Lys688=