Canonical Allele Identifier: CA375046405

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303424T>A (hg19) ; chr9:g.128541145T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541145T>A , CM000671.2:g.128541145T>A	GRCh38
NC_000009.11:g.131303424T>A , CM000671.1:g.131303424T>A	GRCh37
NC_000009.10:g.130343245T>A	NCBI36
NG_012073.1:g.41454T>A , LRG_484:g.41454T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1143T>A	ENSP00000507095.1:n.*1143T>A
ENST00000683288.1:c.*2071T>A	ENSP00000507477.1:n.*2071T>A
ENST00000683748.1:c.2099T>A	ENSP00000507377.1:p.Leu700Gln
ENST00000683905.1:c.*748T>A	ENSP00000506960.1:n.*748T>A
ENST00000684139.1:c.1607T>A	ENSP00000507295.1:p.Leu536Gln
ENST00000684210.1:n.1785T>A
ENST00000684314.1:c.1967T>A	ENSP00000507700.1:p.Leu656Gln
ENST00000684331.1:c.*792T>A	ENSP00000507431.1:n.*792T>A
ENST00000684463.1:n.710T>A
ENST00000684646.1:c.1859T>A	ENSP00000507723.1:p.Leu620Gln
ENST00000309971.9:c.2072T>A MANE Select	ENSP00000308622.5:p.Leu691Gln
ENST00000309971.8:c.2072T>A	ENSP00000308622.4:p.Leu691Gln
NM_001003722.1:c.2072T>A , LRG_484t1:c.2072T>A	NP_001003722.1:p.Leu691Gln
XM_006717059.2:c.2108T>A	XP_006717122.1:p.Leu703Gln
XM_006717060.2:c.2081T>A	XP_006717123.1:p.Leu694Gln
XM_011518549.1:c.2108T>A	XP_011516851.1:p.Leu703Gln
XM_011518550.1:c.2108T>A	XP_011516852.1:p.Leu703Gln
XM_011518551.1:c.2099T>A	XP_011516853.1:p.Leu700Gln
XM_011518552.1:c.1349T>A	XP_011516854.1:p.Leu450Gln
XR_242681.3:n.100+2234A>T
XM_006717059.3:c.2108T>A	XP_006717122.1:p.Leu703Gln
XM_006717060.3:c.2081T>A	XP_006717123.1:p.Leu694Gln
XM_011518551.2:c.2099T>A	XP_011516853.1:p.Leu700Gln
XM_024447519.1:c.2081T>A	XP_024303287.1:p.Leu694Gln
NM_001003722.2:c.2072T>A MANE Select	NP_001003722.1:p.Leu691Gln