Canonical Allele Identifier: CA467288823

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541108-T-C
• MyVariant Identifiers: chr9:g.131303387T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541108T>C , CM000671.2:g.128541108T>C	GRCh38
NC_000009.11:g.131303387T>C , CM000671.1:g.131303387T>C	GRCh37
NC_000009.10:g.130343208T>C	NCBI36
NG_012073.1:g.41417T>C , LRG_484:g.41417T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1106T>C	ENSP00000507095.1:n.*1106T>C
ENST00000683288.1:c.*2034T>C	ENSP00000507477.1:n.*2034T>C
ENST00000683748.1:c.2062T>C	ENSP00000507377.1:p.Leu688=
ENST00000683905.1:c.*711T>C	ENSP00000506960.1:n.*711T>C
ENST00000684139.1:c.1570T>C	ENSP00000507295.1:p.Leu524=
ENST00000684210.1:n.1748T>C
ENST00000684314.1:c.1930T>C	ENSP00000507700.1:p.Leu644=
ENST00000684331.1:c.*755T>C	ENSP00000507431.1:n.*755T>C
ENST00000684463.1:n.673T>C
ENST00000684646.1:c.1822T>C	ENSP00000507723.1:p.Leu608=
ENST00000309971.9:c.2035T>C MANE Select	ENSP00000308622.5:p.Leu679=
ENST00000309971.8:c.2035T>C	ENSP00000308622.4:p.Leu679=
NM_001003722.1:c.2035T>C , LRG_484t1:c.2035T>C	NP_001003722.1:p.Leu679=
XM_006717059.2:c.2071T>C	XP_006717122.1:p.Leu691=
XM_006717060.2:c.2044T>C	XP_006717123.1:p.Leu682=
XM_011518549.1:c.2071T>C	XP_011516851.1:p.Leu691=
XM_011518550.1:c.2071T>C	XP_011516852.1:p.Leu691=
XM_011518551.1:c.2062T>C	XP_011516853.1:p.Leu688=
XM_011518552.1:c.1312T>C	XP_011516854.1:p.Leu438=
XR_242681.3:n.100+2271A>G
XM_006717059.3:c.2071T>C	XP_006717122.1:p.Leu691=
XM_006717060.3:c.2044T>C	XP_006717123.1:p.Leu682=
XM_011518551.2:c.2062T>C	XP_011516853.1:p.Leu688=
XM_024447519.1:c.2044T>C	XP_024303287.1:p.Leu682=
NM_001003722.2:c.2035T>C MANE Select	NP_001003722.1:p.Leu679=