Canonical Allele Identifier: CA375046243

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302593C>G (hg19) ; chr9:g.128540314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540314C>G , CM000671.2:g.128540314C>G	GRCh38
NC_000009.11:g.131302593C>G , CM000671.1:g.131302593C>G	GRCh37
NC_000009.10:g.130342414C>G	NCBI36
NG_012073.1:g.40623C>G , LRG_484:g.40623C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1075C>G	ENSP00000507095.1:n.*1075C>G
ENST00000683288.1:c.*2003C>G	ENSP00000507477.1:n.*2003C>G
ENST00000683748.1:c.2031C>G	ENSP00000507377.1:p.Phe677Leu
ENST00000683905.1:c.*680C>G	ENSP00000506960.1:n.*680C>G
ENST00000684139.1:c.1539C>G	ENSP00000507295.1:p.Phe513Leu
ENST00000684210.1:n.1717C>G
ENST00000684314.1:c.1899C>G	ENSP00000507700.1:p.Phe633Leu
ENST00000684331.1:c.2004C>G	ENSP00000507431.1:p.Phe668Leu
ENST00000684463.1:n.642C>G
ENST00000684646.1:c.1791C>G	ENSP00000507723.1:p.Phe597Leu
ENST00000309971.9:c.2004C>G MANE Select	ENSP00000308622.5:p.Phe668Leu
ENST00000309971.8:c.2004C>G	ENSP00000308622.4:p.Phe668Leu
NM_001003722.1:c.2004C>G , LRG_484t1:c.2004C>G	NP_001003722.1:p.Phe668Leu
XM_006717059.2:c.2040C>G	XP_006717122.1:p.Phe680Leu
XM_006717060.2:c.2013C>G	XP_006717123.1:p.Phe671Leu
XM_011518549.1:c.2040C>G	XP_011516851.1:p.Phe680Leu
XM_011518550.1:c.2040C>G	XP_011516852.1:p.Phe680Leu
XM_011518551.1:c.2031C>G	XP_011516853.1:p.Phe677Leu
XM_011518552.1:c.1281C>G	XP_011516854.1:p.Phe427Leu
XR_242681.3:n.100+3065G>C
XR_428600.2:n.124+656G>C
XM_006717059.3:c.2040C>G	XP_006717122.1:p.Phe680Leu
XM_006717060.3:c.2013C>G	XP_006717123.1:p.Phe671Leu
XM_011518551.2:c.2031C>G	XP_011516853.1:p.Phe677Leu
XM_024447519.1:c.2013C>G	XP_024303287.1:p.Phe671Leu
XR_428600.3:n.126+656G>C
NM_001003722.2:c.2004C>G MANE Select	NP_001003722.1:p.Phe668Leu