Canonical Allele Identifier: CA375046104

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302558G>T (hg19) ; chr9:g.128540279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540279G>T , CM000671.2:g.128540279G>T	GRCh38
NC_000009.11:g.131302558G>T , CM000671.1:g.131302558G>T	GRCh37
NC_000009.10:g.130342379G>T	NCBI36
NG_012073.1:g.40588G>T , LRG_484:g.40588G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1040G>T	ENSP00000507095.1:n.*1040G>T
ENST00000683288.1:c.*1968G>T	ENSP00000507477.1:n.*1968G>T
ENST00000683748.1:c.1996G>T	ENSP00000507377.1:p.Glu666Ter
ENST00000683905.1:c.*645G>T	ENSP00000506960.1:n.*645G>T
ENST00000684139.1:c.1504G>T	ENSP00000507295.1:p.Glu502Ter
ENST00000684210.1:n.1682G>T
ENST00000684314.1:c.1864G>T	ENSP00000507700.1:p.Glu622Ter
ENST00000684331.1:c.1969G>T	ENSP00000507431.1:p.Glu657Ter
ENST00000684463.1:n.607G>T
ENST00000684646.1:c.1756G>T	ENSP00000507723.1:p.Glu586Ter
ENST00000309971.9:c.1969G>T MANE Select	ENSP00000308622.5:p.Glu657Ter
ENST00000309971.8:c.1969G>T	ENSP00000308622.4:p.Glu657Ter
NM_001003722.1:c.1969G>T , LRG_484t1:c.1969G>T	NP_001003722.1:p.Glu657Ter
XM_006717059.2:c.2005G>T	XP_006717122.1:p.Glu669Ter
XM_006717060.2:c.1978G>T	XP_006717123.1:p.Glu660Ter
XM_011518549.1:c.2005G>T	XP_011516851.1:p.Glu669Ter
XM_011518550.1:c.2005G>T	XP_011516852.1:p.Glu669Ter
XM_011518551.1:c.1996G>T	XP_011516853.1:p.Glu666Ter
XM_011518552.1:c.1246G>T	XP_011516854.1:p.Glu416Ter
XR_242681.3:n.100+3100C>A
XR_428600.2:n.124+691C>A
XM_006717059.3:c.2005G>T	XP_006717122.1:p.Glu669Ter
XM_006717060.3:c.1978G>T	XP_006717123.1:p.Glu660Ter
XM_011518551.2:c.1996G>T	XP_011516853.1:p.Glu666Ter
XM_024447519.1:c.1978G>T	XP_024303287.1:p.Glu660Ter
XR_428600.3:n.126+691C>A
NM_001003722.2:c.1969G>T MANE Select	NP_001003722.1:p.Glu657Ter