Canonical Allele Identifier: CA375046323

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303386T>A (hg19) ; chr9:g.128541107T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541107T>A , CM000671.2:g.128541107T>A	GRCh38
NC_000009.11:g.131303386T>A , CM000671.1:g.131303386T>A	GRCh37
NC_000009.10:g.130343207T>A	NCBI36
NG_012073.1:g.41416T>A , LRG_484:g.41416T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1105T>A	ENSP00000507095.1:n.*1105T>A
ENST00000683288.1:c.*2033T>A	ENSP00000507477.1:n.*2033T>A
ENST00000683748.1:c.2061T>A	ENSP00000507377.1:p.Cys687Ter
ENST00000683905.1:c.*710T>A	ENSP00000506960.1:n.*710T>A
ENST00000684139.1:c.1569T>A	ENSP00000507295.1:p.Cys523Ter
ENST00000684210.1:n.1747T>A
ENST00000684314.1:c.1929T>A	ENSP00000507700.1:p.Cys643Ter
ENST00000684331.1:c.*754T>A	ENSP00000507431.1:n.*754T>A
ENST00000684463.1:n.672T>A
ENST00000684646.1:c.1821T>A	ENSP00000507723.1:p.Cys607Ter
ENST00000309971.9:c.2034T>A MANE Select	ENSP00000308622.5:p.Cys678Ter
ENST00000309971.8:c.2034T>A	ENSP00000308622.4:p.Cys678Ter
NM_001003722.1:c.2034T>A , LRG_484t1:c.2034T>A	NP_001003722.1:p.Cys678Ter
XM_006717059.2:c.2070T>A	XP_006717122.1:p.Cys690Ter
XM_006717060.2:c.2043T>A	XP_006717123.1:p.Cys681Ter
XM_011518549.1:c.2070T>A	XP_011516851.1:p.Cys690Ter
XM_011518550.1:c.2070T>A	XP_011516852.1:p.Cys690Ter
XM_011518551.1:c.2061T>A	XP_011516853.1:p.Cys687Ter
XM_011518552.1:c.1311T>A	XP_011516854.1:p.Cys437Ter
XR_242681.3:n.100+2272A>T
XM_006717059.3:c.2070T>A	XP_006717122.1:p.Cys690Ter
XM_006717060.3:c.2043T>A	XP_006717123.1:p.Cys681Ter
XM_011518551.2:c.2061T>A	XP_011516853.1:p.Cys687Ter
XM_024447519.1:c.2043T>A	XP_024303287.1:p.Cys681Ter
NM_001003722.2:c.2034T>A MANE Select	NP_001003722.1:p.Cys678Ter