Canonical Allele Identifier: CA375046232

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302588T>G (hg19) ; chr9:g.128540309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540309T>G , CM000671.2:g.128540309T>G	GRCh38
NC_000009.11:g.131302588T>G , CM000671.1:g.131302588T>G	GRCh37
NC_000009.10:g.130342409T>G	NCBI36
NG_012073.1:g.40618T>G , LRG_484:g.40618T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1070T>G	ENSP00000507095.1:n.*1070T>G
ENST00000683288.1:c.*1998T>G	ENSP00000507477.1:n.*1998T>G
ENST00000683748.1:c.2026T>G	ENSP00000507377.1:p.Ser676Ala
ENST00000683905.1:c.*675T>G	ENSP00000506960.1:n.*675T>G
ENST00000684139.1:c.1534T>G	ENSP00000507295.1:p.Ser512Ala
ENST00000684210.1:n.1712T>G
ENST00000684314.1:c.1894T>G	ENSP00000507700.1:p.Ser632Ala
ENST00000684331.1:c.1999T>G	ENSP00000507431.1:p.Ser667Ala
ENST00000684463.1:n.637T>G
ENST00000684646.1:c.1786T>G	ENSP00000507723.1:p.Ser596Ala
ENST00000309971.9:c.1999T>G MANE Select	ENSP00000308622.5:p.Ser667Ala
ENST00000309971.8:c.1999T>G	ENSP00000308622.4:p.Ser667Ala
NM_001003722.1:c.1999T>G , LRG_484t1:c.1999T>G	NP_001003722.1:p.Ser667Ala
XM_006717059.2:c.2035T>G	XP_006717122.1:p.Ser679Ala
XM_006717060.2:c.2008T>G	XP_006717123.1:p.Ser670Ala
XM_011518549.1:c.2035T>G	XP_011516851.1:p.Ser679Ala
XM_011518550.1:c.2035T>G	XP_011516852.1:p.Ser679Ala
XM_011518551.1:c.2026T>G	XP_011516853.1:p.Ser676Ala
XM_011518552.1:c.1276T>G	XP_011516854.1:p.Ser426Ala
XR_242681.3:n.100+3070A>C
XR_428600.2:n.124+661A>C
XM_006717059.3:c.2035T>G	XP_006717122.1:p.Ser679Ala
XM_006717060.3:c.2008T>G	XP_006717123.1:p.Ser670Ala
XM_011518551.2:c.2026T>G	XP_011516853.1:p.Ser676Ala
XM_024447519.1:c.2008T>G	XP_024303287.1:p.Ser670Ala
XR_428600.3:n.126+661A>C
NM_001003722.2:c.1999T>G MANE Select	NP_001003722.1:p.Ser667Ala