Canonical Allele Identifier: CA5264031

Gene: GLE1

Linked Data

• dbSNP Id: rs201163437
• ExAC: 9:131302598 G / T
• gnomAD v2: 9-131302598-G-T
• gnomAD v3: 9-128540319-G-T
• gnomAD v4: 9-128540319-G-T
• MyVariant Identifiers: chr9:g.131302598G>T (hg19) ; chr9:g.128540319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540319G>T , CM000671.2:g.128540319G>T	GRCh38
NC_000009.11:g.131302598G>T , CM000671.1:g.131302598G>T	GRCh37
NC_000009.10:g.130342419G>T	NCBI36
NG_012073.1:g.40628G>T , LRG_484:g.40628G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1080G>T	ENSP00000507095.1:n.*1080G>T
ENST00000683288.1:c.*2008G>T	ENSP00000507477.1:n.*2008G>T
ENST00000683748.1:c.2036G>T	ENSP00000507377.1:p.Arg679Leu
ENST00000683905.1:c.*685G>T	ENSP00000506960.1:n.*685G>T
ENST00000684139.1:c.1544G>T	ENSP00000507295.1:p.Arg515Leu
ENST00000684210.1:n.1722G>T
ENST00000684314.1:c.1904G>T	ENSP00000507700.1:p.Arg635Leu
ENST00000684331.1:c.2009G>T	ENSP00000507431.1:p.Arg670Leu
ENST00000684463.1:n.647G>T
ENST00000684646.1:c.1796G>T	ENSP00000507723.1:p.Arg599Leu
ENST00000309971.9:c.2009G>T MANE Select	ENSP00000308622.5:p.Arg670Leu
ENST00000309971.8:c.2009G>T	ENSP00000308622.4:p.Arg670Leu
NM_001003722.1:c.2009G>T , LRG_484t1:c.2009G>T	NP_001003722.1:p.Arg670Leu
XM_006717059.2:c.2045G>T	XP_006717122.1:p.Arg682Leu
XM_006717060.2:c.2018G>T	XP_006717123.1:p.Arg673Leu
XM_011518549.1:c.2045G>T	XP_011516851.1:p.Arg682Leu
XM_011518550.1:c.2045G>T	XP_011516852.1:p.Arg682Leu
XM_011518551.1:c.2036G>T	XP_011516853.1:p.Arg679Leu
XM_011518552.1:c.1286G>T	XP_011516854.1:p.Arg429Leu
XR_242681.3:n.100+3060C>A
XR_428600.2:n.124+651C>A
XM_006717059.3:c.2045G>T	XP_006717122.1:p.Arg682Leu
XM_006717060.3:c.2018G>T	XP_006717123.1:p.Arg673Leu
XM_011518551.2:c.2036G>T	XP_011516853.1:p.Arg679Leu
XM_024447519.1:c.2018G>T	XP_024303287.1:p.Arg673Leu
XR_428600.3:n.126+651C>A
NM_001003722.2:c.2009G>T MANE Select	NP_001003722.1:p.Arg670Leu