Canonical Allele Identifier: CA467288839

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541131-C-A
• MyVariant Identifiers: chr9:g.131303410C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541131C>A , CM000671.2:g.128541131C>A	GRCh38
NC_000009.11:g.131303410C>A , CM000671.1:g.131303410C>A	GRCh37
NC_000009.10:g.130343231C>A	NCBI36
NG_012073.1:g.41440C>A , LRG_484:g.41440C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1129C>A	ENSP00000507095.1:n.*1129C>A
ENST00000683288.1:c.*2057C>A	ENSP00000507477.1:n.*2057C>A
ENST00000683748.1:c.2085C>A	ENSP00000507377.1:p.Val695=
ENST00000683905.1:c.*734C>A	ENSP00000506960.1:n.*734C>A
ENST00000684139.1:c.1593C>A	ENSP00000507295.1:p.Val531=
ENST00000684210.1:n.1771C>A
ENST00000684314.1:c.1953C>A	ENSP00000507700.1:p.Val651=
ENST00000684331.1:c.*778C>A	ENSP00000507431.1:n.*778C>A
ENST00000684463.1:n.696C>A
ENST00000684646.1:c.1845C>A	ENSP00000507723.1:p.Val615=
ENST00000309971.9:c.2058C>A MANE Select	ENSP00000308622.5:p.Val686=
ENST00000309971.8:c.2058C>A	ENSP00000308622.4:p.Val686=
NM_001003722.1:c.2058C>A , LRG_484t1:c.2058C>A	NP_001003722.1:p.Val686=
XM_006717059.2:c.2094C>A	XP_006717122.1:p.Val698=
XM_006717060.2:c.2067C>A	XP_006717123.1:p.Val689=
XM_011518549.1:c.2094C>A	XP_011516851.1:p.Val698=
XM_011518550.1:c.2094C>A	XP_011516852.1:p.Val698=
XM_011518551.1:c.2085C>A	XP_011516853.1:p.Val695=
XM_011518552.1:c.1335C>A	XP_011516854.1:p.Val445=
XR_242681.3:n.100+2248G>T
XM_006717059.3:c.2094C>A	XP_006717122.1:p.Val698=
XM_006717060.3:c.2067C>A	XP_006717123.1:p.Val689=
XM_011518551.2:c.2085C>A	XP_011516853.1:p.Val695=
XM_024447519.1:c.2067C>A	XP_024303287.1:p.Val689=
NM_001003722.2:c.2058C>A MANE Select	NP_001003722.1:p.Val686=