Canonical Allele Identifier: CA375046212

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302580A>T (hg19) ; chr9:g.128540301A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540301A>T , CM000671.2:g.128540301A>T	GRCh38
NC_000009.11:g.131302580A>T , CM000671.1:g.131302580A>T	GRCh37
NC_000009.10:g.130342401A>T	NCBI36
NG_012073.1:g.40610A>T , LRG_484:g.40610A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1062A>T	ENSP00000507095.1:n.*1062A>T
ENST00000683288.1:c.*1990A>T	ENSP00000507477.1:n.*1990A>T
ENST00000683748.1:c.2018A>T	ENSP00000507377.1:p.Gln673Leu
ENST00000683905.1:c.*667A>T	ENSP00000506960.1:n.*667A>T
ENST00000684139.1:c.1526A>T	ENSP00000507295.1:p.Gln509Leu
ENST00000684210.1:n.1704A>T
ENST00000684314.1:c.1886A>T	ENSP00000507700.1:p.Gln629Leu
ENST00000684331.1:c.1991A>T	ENSP00000507431.1:p.Gln664Leu
ENST00000684463.1:n.629A>T
ENST00000684646.1:c.1778A>T	ENSP00000507723.1:p.Gln593Leu
ENST00000309971.9:c.1991A>T MANE Select	ENSP00000308622.5:p.Gln664Leu
ENST00000309971.8:c.1991A>T	ENSP00000308622.4:p.Gln664Leu
NM_001003722.1:c.1991A>T , LRG_484t1:c.1991A>T	NP_001003722.1:p.Gln664Leu
XM_006717059.2:c.2027A>T	XP_006717122.1:p.Gln676Leu
XM_006717060.2:c.2000A>T	XP_006717123.1:p.Gln667Leu
XM_011518549.1:c.2027A>T	XP_011516851.1:p.Gln676Leu
XM_011518550.1:c.2027A>T	XP_011516852.1:p.Gln676Leu
XM_011518551.1:c.2018A>T	XP_011516853.1:p.Gln673Leu
XM_011518552.1:c.1268A>T	XP_011516854.1:p.Gln423Leu
XR_242681.3:n.100+3078T>A
XR_428600.2:n.124+669T>A
XM_006717059.3:c.2027A>T	XP_006717122.1:p.Gln676Leu
XM_006717060.3:c.2000A>T	XP_006717123.1:p.Gln667Leu
XM_011518551.2:c.2018A>T	XP_011516853.1:p.Gln673Leu
XM_024447519.1:c.2000A>T	XP_024303287.1:p.Gln667Leu
XR_428600.3:n.126+669T>A
NM_001003722.2:c.1991A>T MANE Select	NP_001003722.1:p.Gln664Leu