Canonical Allele Identifier: CA375046371

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541127-C-T
• MyVariant Identifiers: chr9:g.131303406C>T (hg19) ; chr9:g.128541127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541127C>T , CM000671.2:g.128541127C>T	GRCh38
NC_000009.11:g.131303406C>T , CM000671.1:g.131303406C>T	GRCh37
NC_000009.10:g.130343227C>T	NCBI36
NG_012073.1:g.41436C>T , LRG_484:g.41436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1125C>T	ENSP00000507095.1:n.*1125C>T
ENST00000683288.1:c.*2053C>T	ENSP00000507477.1:n.*2053C>T
ENST00000683748.1:c.2081C>T	ENSP00000507377.1:p.Pro694Leu
ENST00000683905.1:c.*730C>T	ENSP00000506960.1:n.*730C>T
ENST00000684139.1:c.1589C>T	ENSP00000507295.1:p.Pro530Leu
ENST00000684210.1:n.1767C>T
ENST00000684314.1:c.1949C>T	ENSP00000507700.1:p.Pro650Leu
ENST00000684331.1:c.*774C>T	ENSP00000507431.1:n.*774C>T
ENST00000684463.1:n.692C>T
ENST00000684646.1:c.1841C>T	ENSP00000507723.1:p.Pro614Leu
ENST00000309971.9:c.2054C>T MANE Select	ENSP00000308622.5:p.Pro685Leu
ENST00000309971.8:c.2054C>T	ENSP00000308622.4:p.Pro685Leu
NM_001003722.1:c.2054C>T , LRG_484t1:c.2054C>T	NP_001003722.1:p.Pro685Leu
XM_006717059.2:c.2090C>T	XP_006717122.1:p.Pro697Leu
XM_006717060.2:c.2063C>T	XP_006717123.1:p.Pro688Leu
XM_011518549.1:c.2090C>T	XP_011516851.1:p.Pro697Leu
XM_011518550.1:c.2090C>T	XP_011516852.1:p.Pro697Leu
XM_011518551.1:c.2081C>T	XP_011516853.1:p.Pro694Leu
XM_011518552.1:c.1331C>T	XP_011516854.1:p.Pro444Leu
XR_242681.3:n.100+2252G>A
XM_006717059.3:c.2090C>T	XP_006717122.1:p.Pro697Leu
XM_006717060.3:c.2063C>T	XP_006717123.1:p.Pro688Leu
XM_011518551.2:c.2081C>T	XP_011516853.1:p.Pro694Leu
XM_024447519.1:c.2063C>T	XP_024303287.1:p.Pro688Leu
NM_001003722.2:c.2054C>T MANE Select	NP_001003722.1:p.Pro685Leu