Canonical Allele Identifier: CA467288847

Gene: GLE1

Linked Data

• dbSNP Id: rs1270081739
• gnomAD v2: 9-131303413-C-T
• gnomAD v4: 9-128541134-C-T
• MyVariant Identifiers: chr9:g.131303413C>T (hg19) ; chr9:g.128541134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541134C>T , CM000671.2:g.128541134C>T	GRCh38
NC_000009.11:g.131303413C>T , CM000671.1:g.131303413C>T	GRCh37
NC_000009.10:g.130343234C>T	NCBI36
NG_012073.1:g.41443C>T , LRG_484:g.41443C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1132C>T	ENSP00000507095.1:n.*1132C>T
ENST00000683288.1:c.*2060C>T	ENSP00000507477.1:n.*2060C>T
ENST00000683748.1:c.2088C>T	ENSP00000507377.1:p.Pro696=
ENST00000683905.1:c.*737C>T	ENSP00000506960.1:n.*737C>T
ENST00000684139.1:c.1596C>T	ENSP00000507295.1:p.Pro532=
ENST00000684210.1:n.1774C>T
ENST00000684314.1:c.1956C>T	ENSP00000507700.1:p.Pro652=
ENST00000684331.1:c.*781C>T	ENSP00000507431.1:n.*781C>T
ENST00000684463.1:n.699C>T
ENST00000684646.1:c.1848C>T	ENSP00000507723.1:p.Pro616=
ENST00000309971.9:c.2061C>T MANE Select	ENSP00000308622.5:p.Pro687=
ENST00000309971.8:c.2061C>T	ENSP00000308622.4:p.Pro687=
NM_001003722.1:c.2061C>T , LRG_484t1:c.2061C>T	NP_001003722.1:p.Pro687=
XM_006717059.2:c.2097C>T	XP_006717122.1:p.Pro699=
XM_006717060.2:c.2070C>T	XP_006717123.1:p.Pro690=
XM_011518549.1:c.2097C>T	XP_011516851.1:p.Pro699=
XM_011518550.1:c.2097C>T	XP_011516852.1:p.Pro699=
XM_011518551.1:c.2088C>T	XP_011516853.1:p.Pro696=
XM_011518552.1:c.1338C>T	XP_011516854.1:p.Pro446=
XR_242681.3:n.100+2245G>A
XM_006717059.3:c.2097C>T	XP_006717122.1:p.Pro699=
XM_006717060.3:c.2070C>T	XP_006717123.1:p.Pro690=
XM_011518551.2:c.2088C>T	XP_011516853.1:p.Pro696=
XM_024447519.1:c.2070C>T	XP_024303287.1:p.Pro690=
NM_001003722.2:c.2061C>T MANE Select	NP_001003722.1:p.Pro687=