Canonical Allele Identifier: CA375046109

Gene: GLE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1040G>A	ENSP00000507095.1:n.*1040G>A
ENST00000683288.1:c.*1968G>A	ENSP00000507477.1:n.*1968G>A
ENST00000683748.1:c.1996G>A	ENSP00000507377.1:p.Glu666Lys
ENST00000683905.1:c.*645G>A	ENSP00000506960.1:n.*645G>A
ENST00000684139.1:c.1504G>A	ENSP00000507295.1:p.Glu502Lys
ENST00000684210.1:n.1682G>A
ENST00000684314.1:c.1864G>A	ENSP00000507700.1:p.Glu622Lys
ENST00000684331.1:c.1969G>A	ENSP00000507431.1:p.Glu657Lys
ENST00000684463.1:n.607G>A
ENST00000684646.1:c.1756G>A	ENSP00000507723.1:p.Glu586Lys
ENST00000309971.9:c.1969G>A MANE Select	ENSP00000308622.5:p.Glu657Lys
ENST00000309971.8:c.1969G>A	ENSP00000308622.4:p.Glu657Lys
NM_001003722.1:c.1969G>A , LRG_484t1:c.1969G>A	NP_001003722.1:p.Glu657Lys
XM_006717059.2:c.2005G>A	XP_006717122.1:p.Glu669Lys
XM_006717060.2:c.1978G>A	XP_006717123.1:p.Glu660Lys
XM_011518549.1:c.2005G>A	XP_011516851.1:p.Glu669Lys
XM_011518550.1:c.2005G>A	XP_011516852.1:p.Glu669Lys
XM_011518551.1:c.1996G>A	XP_011516853.1:p.Glu666Lys
XM_011518552.1:c.1246G>A	XP_011516854.1:p.Glu416Lys
XR_242681.3:n.100+3100C>T
XR_428600.2:n.124+691C>T
XM_006717059.3:c.2005G>A	XP_006717122.1:p.Glu669Lys
XM_006717060.3:c.1978G>A	XP_006717123.1:p.Glu660Lys
XM_011518551.2:c.1996G>A	XP_011516853.1:p.Glu666Lys
XM_024447519.1:c.1978G>A	XP_024303287.1:p.Glu660Lys
XR_428600.3:n.126+691C>T
NM_001003722.2:c.1969G>A MANE Select	NP_001003722.1:p.Glu657Lys