Canonical Allele Identifier: CA375046316

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303384T>A (hg19) ; chr9:g.128541105T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541105T>A , CM000671.2:g.128541105T>A	GRCh38
NC_000009.11:g.131303384T>A , CM000671.1:g.131303384T>A	GRCh37
NC_000009.10:g.130343205T>A	NCBI36
NG_012073.1:g.41414T>A , LRG_484:g.41414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1103T>A	ENSP00000507095.1:n.*1103T>A
ENST00000683288.1:c.*2031T>A	ENSP00000507477.1:n.*2031T>A
ENST00000683748.1:c.2059T>A	ENSP00000507377.1:p.Cys687Ser
ENST00000683905.1:c.*708T>A	ENSP00000506960.1:n.*708T>A
ENST00000684139.1:c.1567T>A	ENSP00000507295.1:p.Cys523Ser
ENST00000684210.1:n.1745T>A
ENST00000684314.1:c.1927T>A	ENSP00000507700.1:p.Cys643Ser
ENST00000684331.1:c.*752T>A	ENSP00000507431.1:n.*752T>A
ENST00000684463.1:n.670T>A
ENST00000684646.1:c.1819T>A	ENSP00000507723.1:p.Cys607Ser
ENST00000309971.9:c.2032T>A MANE Select	ENSP00000308622.5:p.Cys678Ser
ENST00000309971.8:c.2032T>A	ENSP00000308622.4:p.Cys678Ser
NM_001003722.1:c.2032T>A , LRG_484t1:c.2032T>A	NP_001003722.1:p.Cys678Ser
XM_006717059.2:c.2068T>A	XP_006717122.1:p.Cys690Ser
XM_006717060.2:c.2041T>A	XP_006717123.1:p.Cys681Ser
XM_011518549.1:c.2068T>A	XP_011516851.1:p.Cys690Ser
XM_011518550.1:c.2068T>A	XP_011516852.1:p.Cys690Ser
XM_011518551.1:c.2059T>A	XP_011516853.1:p.Cys687Ser
XM_011518552.1:c.1309T>A	XP_011516854.1:p.Cys437Ser
XR_242681.3:n.100+2274A>T
XM_006717059.3:c.2068T>A	XP_006717122.1:p.Cys690Ser
XM_006717060.3:c.2041T>A	XP_006717123.1:p.Cys681Ser
XM_011518551.2:c.2059T>A	XP_011516853.1:p.Cys687Ser
XM_024447519.1:c.2041T>A	XP_024303287.1:p.Cys681Ser
NM_001003722.2:c.2032T>A MANE Select	NP_001003722.1:p.Cys678Ser