Canonical Allele Identifier: CA375046332

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303390C>G (hg19) ; chr9:g.128541111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541111C>G , CM000671.2:g.128541111C>G	GRCh38
NC_000009.11:g.131303390C>G , CM000671.1:g.131303390C>G	GRCh37
NC_000009.10:g.130343211C>G	NCBI36
NG_012073.1:g.41420C>G , LRG_484:g.41420C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1109C>G	ENSP00000507095.1:n.*1109C>G
ENST00000683288.1:c.*2037C>G	ENSP00000507477.1:n.*2037C>G
ENST00000683748.1:c.2065C>G	ENSP00000507377.1:p.Gln689Glu
ENST00000683905.1:c.*714C>G	ENSP00000506960.1:n.*714C>G
ENST00000684139.1:c.1573C>G	ENSP00000507295.1:p.Gln525Glu
ENST00000684210.1:n.1751C>G
ENST00000684314.1:c.1933C>G	ENSP00000507700.1:p.Gln645Glu
ENST00000684331.1:c.*758C>G	ENSP00000507431.1:n.*758C>G
ENST00000684463.1:n.676C>G
ENST00000684646.1:c.1825C>G	ENSP00000507723.1:p.Gln609Glu
ENST00000309971.9:c.2038C>G MANE Select	ENSP00000308622.5:p.Gln680Glu
ENST00000309971.8:c.2038C>G	ENSP00000308622.4:p.Gln680Glu
NM_001003722.1:c.2038C>G , LRG_484t1:c.2038C>G	NP_001003722.1:p.Gln680Glu
XM_006717059.2:c.2074C>G	XP_006717122.1:p.Gln692Glu
XM_006717060.2:c.2047C>G	XP_006717123.1:p.Gln683Glu
XM_011518549.1:c.2074C>G	XP_011516851.1:p.Gln692Glu
XM_011518550.1:c.2074C>G	XP_011516852.1:p.Gln692Glu
XM_011518551.1:c.2065C>G	XP_011516853.1:p.Gln689Glu
XM_011518552.1:c.1315C>G	XP_011516854.1:p.Gln439Glu
XR_242681.3:n.100+2268G>C
XM_006717059.3:c.2074C>G	XP_006717122.1:p.Gln692Glu
XM_006717060.3:c.2047C>G	XP_006717123.1:p.Gln683Glu
XM_011518551.2:c.2065C>G	XP_011516853.1:p.Gln689Glu
XM_024447519.1:c.2047C>G	XP_024303287.1:p.Gln683Glu
NM_001003722.2:c.2038C>G MANE Select	NP_001003722.1:p.Gln680Glu