Canonical Allele Identifier: CA118286
Gene: GLE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6465
ClinVar RCV Id: RCV000006836
dbSNP Id: rs121434409

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128541124T>C , CM000671.2:g.128541124T>C GRCh38
NC_000009.11:g.131303403T>C , CM000671.1:g.131303403T>C GRCh37
NC_000009.10:g.130343224T>C NCBI36
NG_012073.1:g.41433T>C , LRG_484:g.41433T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683044.1:c.*1122T>C ENSP00000507095.1:n.*1122T>C
ENST00000683288.1:c.*2050T>C ENSP00000507477.1:n.*2050T>C
ENST00000683748.1:c.2078T>C ENSP00000507377.1:p.Ile693Thr
ENST00000683905.1:c.*727T>C ENSP00000506960.1:n.*727T>C
ENST00000684139.1:c.1586T>C ENSP00000507295.1:p.Ile529Thr
ENST00000684210.1:n.1764T>C
ENST00000684314.1:c.1946T>C ENSP00000507700.1:p.Ile649Thr
ENST00000684331.1:c.*771T>C ENSP00000507431.1:n.*771T>C
ENST00000684463.1:n.689T>C
ENST00000684646.1:c.1838T>C ENSP00000507723.1:p.Ile613Thr
ENST00000309971.9:c.2051T>C MANE Select ENSP00000308622.5:p.Ile684Thr
ENST00000309971.8:c.2051T>C ENSP00000308622.4:p.Ile684Thr
NM_001003722.1:c.2051T>C , LRG_484t1:c.2051T>C NP_001003722.1:p.Ile684Thr
XM_006717059.2:c.2087T>C XP_006717122.1:p.Ile696Thr
XM_006717060.2:c.2060T>C XP_006717123.1:p.Ile687Thr
XM_011518549.1:c.2087T>C XP_011516851.1:p.Ile696Thr
XM_011518550.1:c.2087T>C XP_011516852.1:p.Ile696Thr
XM_011518551.1:c.2078T>C XP_011516853.1:p.Ile693Thr
XM_011518552.1:c.1328T>C XP_011516854.1:p.Ile443Thr
XR_242681.3:n.100+2255A>G
XM_006717059.3:c.2087T>C XP_006717122.1:p.Ile696Thr
XM_006717060.3:c.2060T>C XP_006717123.1:p.Ile687Thr
XM_011518551.2:c.2078T>C XP_011516853.1:p.Ile693Thr
XM_024447519.1:c.2060T>C XP_024303287.1:p.Ile687Thr
NM_001003722.2:c.2051T>C MANE Select NP_001003722.1:p.Ile684Thr