Canonical Allele Identifier: CA467288882

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303437C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541158C>T , CM000671.2:g.128541158C>T	GRCh38
NC_000009.11:g.131303437C>T , CM000671.1:g.131303437C>T	GRCh37
NC_000009.10:g.130343258C>T	NCBI36
NG_012073.1:g.41467C>T , LRG_484:g.41467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1156C>T	ENSP00000507095.1:n.*1156C>T
ENST00000683288.1:c.*2084C>T	ENSP00000507477.1:n.*2084C>T
ENST00000683748.1:c.2112C>T	ENSP00000507377.1:p.Phe704=
ENST00000683905.1:c.*761C>T	ENSP00000506960.1:n.*761C>T
ENST00000684139.1:c.1620C>T	ENSP00000507295.1:p.Phe540=
ENST00000684210.1:n.1798C>T
ENST00000684314.1:c.1980C>T	ENSP00000507700.1:p.Phe660=
ENST00000684331.1:c.*805C>T	ENSP00000507431.1:n.*805C>T
ENST00000684463.1:n.723C>T
ENST00000684646.1:c.1872C>T	ENSP00000507723.1:p.Phe624=
ENST00000309971.9:c.2085C>T MANE Select	ENSP00000308622.5:p.Phe695=
ENST00000309971.8:c.2085C>T	ENSP00000308622.4:p.Phe695=
NM_001003722.1:c.2085C>T , LRG_484t1:c.2085C>T	NP_001003722.1:p.Phe695=
XM_006717059.2:c.2121C>T	XP_006717122.1:p.Phe707=
XM_006717060.2:c.2094C>T	XP_006717123.1:p.Phe698=
XM_011518549.1:c.2121C>T	XP_011516851.1:p.Phe707=
XM_011518550.1:c.2121C>T	XP_011516852.1:p.Phe707=
XM_011518551.1:c.2112C>T	XP_011516853.1:p.Phe704=
XM_011518552.1:c.1362C>T	XP_011516854.1:p.Phe454=
XR_242681.3:n.100+2221G>A
XM_006717059.3:c.2121C>T	XP_006717122.1:p.Phe707=
XM_006717060.3:c.2094C>T	XP_006717123.1:p.Phe698=
XM_011518551.2:c.2112C>T	XP_011516853.1:p.Phe704=
XM_024447519.1:c.2094C>T	XP_024303287.1:p.Phe698=
NM_001003722.2:c.2085C>T MANE Select	NP_001003722.1:p.Phe695=