Canonical Allele Identifier: CA375046205

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302579C>G (hg19) ; chr9:g.128540300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540300C>G , CM000671.2:g.128540300C>G	GRCh38
NC_000009.11:g.131302579C>G , CM000671.1:g.131302579C>G	GRCh37
NC_000009.10:g.130342400C>G	NCBI36
NG_012073.1:g.40609C>G , LRG_484:g.40609C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1061C>G	ENSP00000507095.1:n.*1061C>G
ENST00000683288.1:c.*1989C>G	ENSP00000507477.1:n.*1989C>G
ENST00000683748.1:c.2017C>G	ENSP00000507377.1:p.Gln673Glu
ENST00000683905.1:c.*666C>G	ENSP00000506960.1:n.*666C>G
ENST00000684139.1:c.1525C>G	ENSP00000507295.1:p.Gln509Glu
ENST00000684210.1:n.1703C>G
ENST00000684314.1:c.1885C>G	ENSP00000507700.1:p.Gln629Glu
ENST00000684331.1:c.1990C>G	ENSP00000507431.1:p.Gln664Glu
ENST00000684463.1:n.628C>G
ENST00000684646.1:c.1777C>G	ENSP00000507723.1:p.Gln593Glu
ENST00000309971.9:c.1990C>G MANE Select	ENSP00000308622.5:p.Gln664Glu
ENST00000309971.8:c.1990C>G	ENSP00000308622.4:p.Gln664Glu
NM_001003722.1:c.1990C>G , LRG_484t1:c.1990C>G	NP_001003722.1:p.Gln664Glu
XM_006717059.2:c.2026C>G	XP_006717122.1:p.Gln676Glu
XM_006717060.2:c.1999C>G	XP_006717123.1:p.Gln667Glu
XM_011518549.1:c.2026C>G	XP_011516851.1:p.Gln676Glu
XM_011518550.1:c.2026C>G	XP_011516852.1:p.Gln676Glu
XM_011518551.1:c.2017C>G	XP_011516853.1:p.Gln673Glu
XM_011518552.1:c.1267C>G	XP_011516854.1:p.Gln423Glu
XR_242681.3:n.100+3079G>C
XR_428600.2:n.124+670G>C
XM_006717059.3:c.2026C>G	XP_006717122.1:p.Gln676Glu
XM_006717060.3:c.1999C>G	XP_006717123.1:p.Gln667Glu
XM_011518551.2:c.2017C>G	XP_011516853.1:p.Gln673Glu
XM_024447519.1:c.1999C>G	XP_024303287.1:p.Gln667Glu
XR_428600.3:n.126+670G>C
NM_001003722.2:c.1990C>G MANE Select	NP_001003722.1:p.Gln664Glu