Canonical Allele Identifier: CA375046313

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541103-A-T
• MyVariant Identifiers: chr9:g.131303382A>T (hg19) ; chr9:g.128541103A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541103A>T , CM000671.2:g.128541103A>T	GRCh38
NC_000009.11:g.131303382A>T , CM000671.1:g.131303382A>T	GRCh37
NC_000009.10:g.130343203A>T	NCBI36
NG_012073.1:g.41412A>T , LRG_484:g.41412A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1101A>T	ENSP00000507095.1:n.*1101A>T
ENST00000683288.1:c.*2029A>T	ENSP00000507477.1:n.*2029A>T
ENST00000683748.1:c.2057A>T	ENSP00000507377.1:p.Lys686Ile
ENST00000683905.1:c.*706A>T	ENSP00000506960.1:n.*706A>T
ENST00000684139.1:c.1565A>T	ENSP00000507295.1:p.Lys522Ile
ENST00000684210.1:n.1743A>T
ENST00000684314.1:c.1925A>T	ENSP00000507700.1:p.Lys642Ile
ENST00000684331.1:c.*750A>T	ENSP00000507431.1:n.*750A>T
ENST00000684463.1:n.668A>T
ENST00000684646.1:c.1817A>T	ENSP00000507723.1:p.Lys606Ile
ENST00000309971.9:c.2030A>T MANE Select	ENSP00000308622.5:p.Lys677Ile
ENST00000309971.8:c.2030A>T	ENSP00000308622.4:p.Lys677Ile
NM_001003722.1:c.2030A>T , LRG_484t1:c.2030A>T	NP_001003722.1:p.Lys677Ile
XM_006717059.2:c.2066A>T	XP_006717122.1:p.Lys689Ile
XM_006717060.2:c.2039A>T	XP_006717123.1:p.Lys680Ile
XM_011518549.1:c.2066A>T	XP_011516851.1:p.Lys689Ile
XM_011518550.1:c.2066A>T	XP_011516852.1:p.Lys689Ile
XM_011518551.1:c.2057A>T	XP_011516853.1:p.Lys686Ile
XM_011518552.1:c.1307A>T	XP_011516854.1:p.Lys436Ile
XR_242681.3:n.100+2276T>A
XM_006717059.3:c.2066A>T	XP_006717122.1:p.Lys689Ile
XM_006717060.3:c.2039A>T	XP_006717123.1:p.Lys680Ile
XM_011518551.2:c.2057A>T	XP_011516853.1:p.Lys686Ile
XM_024447519.1:c.2039A>T	XP_024303287.1:p.Lys680Ile
NM_001003722.2:c.2030A>T MANE Select	NP_001003722.1:p.Lys677Ile