Canonical Allele Identifier: CA375046362

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303402A>T (hg19) ; chr9:g.128541123A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541123A>T , CM000671.2:g.128541123A>T	GRCh38
NC_000009.11:g.131303402A>T , CM000671.1:g.131303402A>T	GRCh37
NC_000009.10:g.130343223A>T	NCBI36
NG_012073.1:g.41432A>T , LRG_484:g.41432A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1121A>T	ENSP00000507095.1:n.*1121A>T
ENST00000683288.1:c.*2049A>T	ENSP00000507477.1:n.*2049A>T
ENST00000683748.1:c.2077A>T	ENSP00000507377.1:p.Ile693Phe
ENST00000683905.1:c.*726A>T	ENSP00000506960.1:n.*726A>T
ENST00000684139.1:c.1585A>T	ENSP00000507295.1:p.Ile529Phe
ENST00000684210.1:n.1763A>T
ENST00000684314.1:c.1945A>T	ENSP00000507700.1:p.Ile649Phe
ENST00000684331.1:c.*770A>T	ENSP00000507431.1:n.*770A>T
ENST00000684463.1:n.688A>T
ENST00000684646.1:c.1837A>T	ENSP00000507723.1:p.Ile613Phe
ENST00000309971.9:c.2050A>T MANE Select	ENSP00000308622.5:p.Ile684Phe
ENST00000309971.8:c.2050A>T	ENSP00000308622.4:p.Ile684Phe
NM_001003722.1:c.2050A>T , LRG_484t1:c.2050A>T	NP_001003722.1:p.Ile684Phe
XM_006717059.2:c.2086A>T	XP_006717122.1:p.Ile696Phe
XM_006717060.2:c.2059A>T	XP_006717123.1:p.Ile687Phe
XM_011518549.1:c.2086A>T	XP_011516851.1:p.Ile696Phe
XM_011518550.1:c.2086A>T	XP_011516852.1:p.Ile696Phe
XM_011518551.1:c.2077A>T	XP_011516853.1:p.Ile693Phe
XM_011518552.1:c.1327A>T	XP_011516854.1:p.Ile443Phe
XR_242681.3:n.100+2256T>A
XM_006717059.3:c.2086A>T	XP_006717122.1:p.Ile696Phe
XM_006717060.3:c.2059A>T	XP_006717123.1:p.Ile687Phe
XM_011518551.2:c.2077A>T	XP_011516853.1:p.Ile693Phe
XM_024447519.1:c.2059A>T	XP_024303287.1:p.Ile687Phe
NM_001003722.2:c.2050A>T MANE Select	NP_001003722.1:p.Ile684Phe