Canonical Allele Identifier: CA375046427

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303435T>G (hg19) ; chr9:g.128541156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541156T>G , CM000671.2:g.128541156T>G	GRCh38
NC_000009.11:g.131303435T>G , CM000671.1:g.131303435T>G	GRCh37
NC_000009.10:g.130343256T>G	NCBI36
NG_012073.1:g.41465T>G , LRG_484:g.41465T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1154T>G	ENSP00000507095.1:n.*1154T>G
ENST00000683288.1:c.*2082T>G	ENSP00000507477.1:n.*2082T>G
ENST00000683748.1:c.2110T>G	ENSP00000507377.1:p.Phe704Val
ENST00000683905.1:c.*759T>G	ENSP00000506960.1:n.*759T>G
ENST00000684139.1:c.1618T>G	ENSP00000507295.1:p.Phe540Val
ENST00000684210.1:n.1796T>G
ENST00000684314.1:c.1978T>G	ENSP00000507700.1:p.Phe660Val
ENST00000684331.1:c.*803T>G	ENSP00000507431.1:n.*803T>G
ENST00000684463.1:n.721T>G
ENST00000684646.1:c.1870T>G	ENSP00000507723.1:p.Phe624Val
ENST00000309971.9:c.2083T>G MANE Select	ENSP00000308622.5:p.Phe695Val
ENST00000309971.8:c.2083T>G	ENSP00000308622.4:p.Phe695Val
NM_001003722.1:c.2083T>G , LRG_484t1:c.2083T>G	NP_001003722.1:p.Phe695Val
XM_006717059.2:c.2119T>G	XP_006717122.1:p.Phe707Val
XM_006717060.2:c.2092T>G	XP_006717123.1:p.Phe698Val
XM_011518549.1:c.2119T>G	XP_011516851.1:p.Phe707Val
XM_011518550.1:c.2119T>G	XP_011516852.1:p.Phe707Val
XM_011518551.1:c.2110T>G	XP_011516853.1:p.Phe704Val
XM_011518552.1:c.1360T>G	XP_011516854.1:p.Phe454Val
XR_242681.3:n.100+2223A>C
XM_006717059.3:c.2119T>G	XP_006717122.1:p.Phe707Val
XM_006717060.3:c.2092T>G	XP_006717123.1:p.Phe698Val
XM_011518551.2:c.2110T>G	XP_011516853.1:p.Phe704Val
XM_024447519.1:c.2092T>G	XP_024303287.1:p.Phe698Val
NM_001003722.2:c.2083T>G MANE Select	NP_001003722.1:p.Phe695Val