Canonical Allele Identifier: CA375046392

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303417G>C (hg19) ; chr9:g.128541138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541138G>C , CM000671.2:g.128541138G>C	GRCh38
NC_000009.11:g.131303417G>C , CM000671.1:g.131303417G>C	GRCh37
NC_000009.10:g.130343238G>C	NCBI36
NG_012073.1:g.41447G>C , LRG_484:g.41447G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1136G>C	ENSP00000507095.1:n.*1136G>C
ENST00000683288.1:c.*2064G>C	ENSP00000507477.1:n.*2064G>C
ENST00000683748.1:c.2092G>C	ENSP00000507377.1:p.Gly698Arg
ENST00000683905.1:c.*741G>C	ENSP00000506960.1:n.*741G>C
ENST00000684139.1:c.1600G>C	ENSP00000507295.1:p.Gly534Arg
ENST00000684210.1:n.1778G>C
ENST00000684314.1:c.1960G>C	ENSP00000507700.1:p.Gly654Arg
ENST00000684331.1:c.*785G>C	ENSP00000507431.1:n.*785G>C
ENST00000684463.1:n.703G>C
ENST00000684646.1:c.1852G>C	ENSP00000507723.1:p.Gly618Arg
ENST00000309971.9:c.2065G>C MANE Select	ENSP00000308622.5:p.Gly689Arg
ENST00000309971.8:c.2065G>C	ENSP00000308622.4:p.Gly689Arg
NM_001003722.1:c.2065G>C , LRG_484t1:c.2065G>C	NP_001003722.1:p.Gly689Arg
XM_006717059.2:c.2101G>C	XP_006717122.1:p.Gly701Arg
XM_006717060.2:c.2074G>C	XP_006717123.1:p.Gly692Arg
XM_011518549.1:c.2101G>C	XP_011516851.1:p.Gly701Arg
XM_011518550.1:c.2101G>C	XP_011516852.1:p.Gly701Arg
XM_011518551.1:c.2092G>C	XP_011516853.1:p.Gly698Arg
XM_011518552.1:c.1342G>C	XP_011516854.1:p.Gly448Arg
XR_242681.3:n.100+2241C>G
XM_006717059.3:c.2101G>C	XP_006717122.1:p.Gly701Arg
XM_006717060.3:c.2074G>C	XP_006717123.1:p.Gly692Arg
XM_011518551.2:c.2092G>C	XP_011516853.1:p.Gly698Arg
XM_024447519.1:c.2074G>C	XP_024303287.1:p.Gly692Arg
NM_001003722.2:c.2065G>C MANE Select	NP_001003722.1:p.Gly689Arg