Canonical Allele Identifier: CA375046221

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540304-T-G
• MyVariant Identifiers: chr9:g.131302583T>G (hg19) ; chr9:g.128540304T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540304T>G , CM000671.2:g.128540304T>G	GRCh38
NC_000009.11:g.131302583T>G , CM000671.1:g.131302583T>G	GRCh37
NC_000009.10:g.130342404T>G	NCBI36
NG_012073.1:g.40613T>G , LRG_484:g.40613T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1065T>G	ENSP00000507095.1:n.*1065T>G
ENST00000683288.1:c.*1993T>G	ENSP00000507477.1:n.*1993T>G
ENST00000683748.1:c.2021T>G	ENSP00000507377.1:p.Met674Arg
ENST00000683905.1:c.*670T>G	ENSP00000506960.1:n.*670T>G
ENST00000684139.1:c.1529T>G	ENSP00000507295.1:p.Met510Arg
ENST00000684210.1:n.1707T>G
ENST00000684314.1:c.1889T>G	ENSP00000507700.1:p.Met630Arg
ENST00000684331.1:c.1994T>G	ENSP00000507431.1:p.Met665Arg
ENST00000684463.1:n.632T>G
ENST00000684646.1:c.1781T>G	ENSP00000507723.1:p.Met594Arg
ENST00000309971.9:c.1994T>G MANE Select	ENSP00000308622.5:p.Met665Arg
ENST00000309971.8:c.1994T>G	ENSP00000308622.4:p.Met665Arg
NM_001003722.1:c.1994T>G , LRG_484t1:c.1994T>G	NP_001003722.1:p.Met665Arg
XM_006717059.2:c.2030T>G	XP_006717122.1:p.Met677Arg
XM_006717060.2:c.2003T>G	XP_006717123.1:p.Met668Arg
XM_011518549.1:c.2030T>G	XP_011516851.1:p.Met677Arg
XM_011518550.1:c.2030T>G	XP_011516852.1:p.Met677Arg
XM_011518551.1:c.2021T>G	XP_011516853.1:p.Met674Arg
XM_011518552.1:c.1271T>G	XP_011516854.1:p.Met424Arg
XR_242681.3:n.100+3075A>C
XR_428600.2:n.124+666A>C
XM_006717059.3:c.2030T>G	XP_006717122.1:p.Met677Arg
XM_006717060.3:c.2003T>G	XP_006717123.1:p.Met668Arg
XM_011518551.2:c.2021T>G	XP_011516853.1:p.Met674Arg
XM_024447519.1:c.2003T>G	XP_024303287.1:p.Met668Arg
XR_428600.3:n.126+666A>C
NM_001003722.2:c.1994T>G MANE Select	NP_001003722.1:p.Met665Arg