Canonical Allele Identifier: CA375046365

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303403T>G (hg19) ; chr9:g.128541124T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1122T>G	ENSP00000507095.1:n.*1122T>G
ENST00000683288.1:c.*2050T>G	ENSP00000507477.1:n.*2050T>G
ENST00000683748.1:c.2078T>G	ENSP00000507377.1:p.Ile693Ser
ENST00000683905.1:c.*727T>G	ENSP00000506960.1:n.*727T>G
ENST00000684139.1:c.1586T>G	ENSP00000507295.1:p.Ile529Ser
ENST00000684210.1:n.1764T>G
ENST00000684314.1:c.1946T>G	ENSP00000507700.1:p.Ile649Ser
ENST00000684331.1:c.*771T>G	ENSP00000507431.1:n.*771T>G
ENST00000684463.1:n.689T>G
ENST00000684646.1:c.1838T>G	ENSP00000507723.1:p.Ile613Ser
ENST00000309971.9:c.2051T>G MANE Select	ENSP00000308622.5:p.Ile684Ser
ENST00000309971.8:c.2051T>G	ENSP00000308622.4:p.Ile684Ser
NM_001003722.1:c.2051T>G , LRG_484t1:c.2051T>G	NP_001003722.1:p.Ile684Ser
XM_006717059.2:c.2087T>G	XP_006717122.1:p.Ile696Ser
XM_006717060.2:c.2060T>G	XP_006717123.1:p.Ile687Ser
XM_011518549.1:c.2087T>G	XP_011516851.1:p.Ile696Ser
XM_011518550.1:c.2087T>G	XP_011516852.1:p.Ile696Ser
XM_011518551.1:c.2078T>G	XP_011516853.1:p.Ile693Ser
XM_011518552.1:c.1328T>G	XP_011516854.1:p.Ile443Ser
XR_242681.3:n.100+2255A>C
XM_006717059.3:c.2087T>G	XP_006717122.1:p.Ile696Ser
XM_006717060.3:c.2060T>G	XP_006717123.1:p.Ile687Ser
XM_011518551.2:c.2078T>G	XP_011516853.1:p.Ile693Ser
XM_024447519.1:c.2060T>G	XP_024303287.1:p.Ile687Ser
NM_001003722.2:c.2051T>G MANE Select	NP_001003722.1:p.Ile684Ser