Canonical Allele Identifier: CA375046385

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541135-A-G
• MyVariant Identifiers: chr9:g.131303414A>G (hg19) ; chr9:g.128541135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541135A>G , CM000671.2:g.128541135A>G	GRCh38
NC_000009.11:g.131303414A>G , CM000671.1:g.131303414A>G	GRCh37
NC_000009.10:g.130343235A>G	NCBI36
NG_012073.1:g.41444A>G , LRG_484:g.41444A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1133A>G	ENSP00000507095.1:n.*1133A>G
ENST00000683288.1:c.*2061A>G	ENSP00000507477.1:n.*2061A>G
ENST00000683748.1:c.2089A>G	ENSP00000507377.1:p.Lys697Glu
ENST00000683905.1:c.*738A>G	ENSP00000506960.1:n.*738A>G
ENST00000684139.1:c.1597A>G	ENSP00000507295.1:p.Lys533Glu
ENST00000684210.1:n.1775A>G
ENST00000684314.1:c.1957A>G	ENSP00000507700.1:p.Lys653Glu
ENST00000684331.1:c.*782A>G	ENSP00000507431.1:n.*782A>G
ENST00000684463.1:n.700A>G
ENST00000684646.1:c.1849A>G	ENSP00000507723.1:p.Lys617Glu
ENST00000309971.9:c.2062A>G MANE Select	ENSP00000308622.5:p.Lys688Glu
ENST00000309971.8:c.2062A>G	ENSP00000308622.4:p.Lys688Glu
NM_001003722.1:c.2062A>G , LRG_484t1:c.2062A>G	NP_001003722.1:p.Lys688Glu
XM_006717059.2:c.2098A>G	XP_006717122.1:p.Lys700Glu
XM_006717060.2:c.2071A>G	XP_006717123.1:p.Lys691Glu
XM_011518549.1:c.2098A>G	XP_011516851.1:p.Lys700Glu
XM_011518550.1:c.2098A>G	XP_011516852.1:p.Lys700Glu
XM_011518551.1:c.2089A>G	XP_011516853.1:p.Lys697Glu
XM_011518552.1:c.1339A>G	XP_011516854.1:p.Lys447Glu
XR_242681.3:n.100+2244T>C
XM_006717059.3:c.2098A>G	XP_006717122.1:p.Lys700Glu
XM_006717060.3:c.2071A>G	XP_006717123.1:p.Lys691Glu
XM_011518551.2:c.2089A>G	XP_011516853.1:p.Lys697Glu
XM_024447519.1:c.2071A>G	XP_024303287.1:p.Lys691Glu
NM_001003722.2:c.2062A>G MANE Select	NP_001003722.1:p.Lys688Glu