Canonical Allele Identifier: CA375046254

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302600C>G (hg19) ; chr9:g.128540321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540321C>G , CM000671.2:g.128540321C>G	GRCh38
NC_000009.11:g.131302600C>G , CM000671.1:g.131302600C>G	GRCh37
NC_000009.10:g.130342421C>G	NCBI36
NG_012073.1:g.40630C>G , LRG_484:g.40630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1082C>G	ENSP00000507095.1:n.*1082C>G
ENST00000683288.1:c.*2010C>G	ENSP00000507477.1:n.*2010C>G
ENST00000683748.1:c.2038C>G	ENSP00000507377.1:p.Leu680Val
ENST00000683905.1:c.*687C>G	ENSP00000506960.1:n.*687C>G
ENST00000684139.1:c.1546C>G	ENSP00000507295.1:p.Leu516Val
ENST00000684210.1:n.1724C>G
ENST00000684314.1:c.1906C>G	ENSP00000507700.1:p.Leu636Val
ENST00000684331.1:c.2011C>G	ENSP00000507431.1:p.Leu671Val
ENST00000684463.1:n.649C>G
ENST00000684646.1:c.1798C>G	ENSP00000507723.1:p.Leu600Val
ENST00000309971.9:c.2011C>G MANE Select	ENSP00000308622.5:p.Leu671Val
ENST00000309971.8:c.2011C>G	ENSP00000308622.4:p.Leu671Val
NM_001003722.1:c.2011C>G , LRG_484t1:c.2011C>G	NP_001003722.1:p.Leu671Val
XM_006717059.2:c.2047C>G	XP_006717122.1:p.Leu683Val
XM_006717060.2:c.2020C>G	XP_006717123.1:p.Leu674Val
XM_011518549.1:c.2047C>G	XP_011516851.1:p.Leu683Val
XM_011518550.1:c.2047C>G	XP_011516852.1:p.Leu683Val
XM_011518551.1:c.2038C>G	XP_011516853.1:p.Leu680Val
XM_011518552.1:c.1288C>G	XP_011516854.1:p.Leu430Val
XR_242681.3:n.100+3058G>C
XR_428600.2:n.124+649G>C
XM_006717059.3:c.2047C>G	XP_006717122.1:p.Leu683Val
XM_006717060.3:c.2020C>G	XP_006717123.1:p.Leu674Val
XM_011518551.2:c.2038C>G	XP_011516853.1:p.Leu680Val
XM_024447519.1:c.2020C>G	XP_024303287.1:p.Leu674Val
XR_428600.3:n.126+649G>C
NM_001003722.2:c.2011C>G MANE Select	NP_001003722.1:p.Leu671Val