Canonical Allele Identifier: CA375046412

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303427C>T (hg19) ; chr9:g.128541148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541148C>T , CM000671.2:g.128541148C>T	GRCh38
NC_000009.11:g.131303427C>T , CM000671.1:g.131303427C>T	GRCh37
NC_000009.10:g.130343248C>T	NCBI36
NG_012073.1:g.41457C>T , LRG_484:g.41457C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1146C>T	ENSP00000507095.1:n.*1146C>T
ENST00000683288.1:c.*2074C>T	ENSP00000507477.1:n.*2074C>T
ENST00000683748.1:c.2102C>T	ENSP00000507377.1:p.Thr701Ile
ENST00000683905.1:c.*751C>T	ENSP00000506960.1:n.*751C>T
ENST00000684139.1:c.1610C>T	ENSP00000507295.1:p.Thr537Ile
ENST00000684210.1:n.1788C>T
ENST00000684314.1:c.1970C>T	ENSP00000507700.1:p.Thr657Ile
ENST00000684331.1:c.*795C>T	ENSP00000507431.1:n.*795C>T
ENST00000684463.1:n.713C>T
ENST00000684646.1:c.1862C>T	ENSP00000507723.1:p.Thr621Ile
ENST00000309971.9:c.2075C>T MANE Select	ENSP00000308622.5:p.Thr692Ile
ENST00000309971.8:c.2075C>T	ENSP00000308622.4:p.Thr692Ile
NM_001003722.1:c.2075C>T , LRG_484t1:c.2075C>T	NP_001003722.1:p.Thr692Ile
XM_006717059.2:c.2111C>T	XP_006717122.1:p.Thr704Ile
XM_006717060.2:c.2084C>T	XP_006717123.1:p.Thr695Ile
XM_011518549.1:c.2111C>T	XP_011516851.1:p.Thr704Ile
XM_011518550.1:c.2111C>T	XP_011516852.1:p.Thr704Ile
XM_011518551.1:c.2102C>T	XP_011516853.1:p.Thr701Ile
XM_011518552.1:c.1352C>T	XP_011516854.1:p.Thr451Ile
XR_242681.3:n.100+2231G>A
XM_006717059.3:c.2111C>T	XP_006717122.1:p.Thr704Ile
XM_006717060.3:c.2084C>T	XP_006717123.1:p.Thr695Ile
XM_011518551.2:c.2102C>T	XP_011516853.1:p.Thr701Ile
XM_024447519.1:c.2084C>T	XP_024303287.1:p.Thr695Ile
NM_001003722.2:c.2075C>T MANE Select	NP_001003722.1:p.Thr692Ile