Canonical Allele Identifier: CA10629089

Gene: GLE1

Linked Data

• ClinVar Variation Id: 365142
• ClinVar RCV Id: RCV000265856 ; RCV000358322
• dbSNP Id: rs575049150
• gnomAD v2: 9-131304089-C-T
• gnomAD v3: 9-128541810-C-T
• gnomAD v4: 9-128541810-C-T
• MyVariant Identifiers: chr9:g.131304089C>T (hg19) ; chr9:g.128541810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541810C>T , CM000671.2:g.128541810C>T	GRCh38
NC_000009.11:g.131304089C>T , CM000671.1:g.131304089C>T	GRCh37
NC_000009.10:g.130343910C>T	NCBI36
NG_012073.1:g.42119C>T , LRG_484:g.42119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1808C>T	ENSP00000507095.1:n.*1808C>T
ENST00000683288.1:c.*2736C>T	ENSP00000507477.1:n.*2736C>T
ENST00000683748.1:c.*640C>T	ENSP00000507377.1:n.*640C>T
ENST00000683905.1:c.*1413C>T	ENSP00000506960.1:n.*1413C>T
ENST00000684139.1:c.*640C>T	ENSP00000507295.1:n.*640C>T
ENST00000684210.1:n.2450C>T
ENST00000684314.1:c.*640C>T	ENSP00000507700.1:n.*640C>T
ENST00000684331.1:c.*1457C>T	ENSP00000507431.1:n.*1457C>T
ENST00000684463.1:n.1375C>T
ENST00000684646.1:c.*640C>T	ENSP00000507723.1:n.*640C>T
ENST00000309971.9:c.*640C>T MANE Select	ENSP00000308622.5:n.*640C>T
ENST00000309971.8:c.*640C>T	ENSP00000308622.4:n.*640C>T
NM_001003722.1:c.*640C>T , LRG_484t1:c.*640C>T	NP_001003722.1:n.*640C>T
XM_006717059.2:c.*640C>T	XP_006717122.1:n.*640C>T
XM_006717060.2:c.*640C>T	XP_006717123.1:n.*640C>T
XM_011518549.1:c.*640C>T	XP_011516851.1:n.*640C>T
XM_011518550.1:c.*640C>T	XP_011516852.1:n.*640C>T
XM_011518551.1:c.*640C>T	XP_011516853.1:n.*640C>T
XM_011518552.1:c.*640C>T	XP_011516854.1:n.*640C>T
XR_242681.3:n.100+1569G>A
XM_006717059.3:c.*640C>T	XP_006717122.1:n.*640C>T
XM_006717060.3:c.*640C>T	XP_006717123.1:n.*640C>T
XM_011518551.2:c.*640C>T	XP_011516853.1:n.*640C>T
XM_024447519.1:c.*640C>T	XP_024303287.1:n.*640C>T
NM_001003722.2:c.*640C>T MANE Select	NP_001003722.1:n.*640C>T