Canonical Allele Identifier: CA375046292

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302615G>T (hg19) ; chr9:g.128540336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540336G>T , CM000671.2:g.128540336G>T	GRCh38
NC_000009.11:g.131302615G>T , CM000671.1:g.131302615G>T	GRCh37
NC_000009.10:g.130342436G>T	NCBI36
NG_012073.1:g.40645G>T , LRG_484:g.40645G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1097G>T	ENSP00000507095.1:n.*1097G>T
ENST00000683288.1:c.*2025G>T	ENSP00000507477.1:n.*2025G>T
ENST00000683748.1:c.2053G>T	ENSP00000507377.1:p.Glu685Ter
ENST00000683905.1:c.*702G>T	ENSP00000506960.1:n.*702G>T
ENST00000684139.1:c.1561G>T	ENSP00000507295.1:p.Glu521Ter
ENST00000684210.1:n.1739G>T
ENST00000684314.1:c.1921G>T	ENSP00000507700.1:p.Glu641Ter
ENST00000684331.1:c.2026G>T	ENSP00000507431.1:p.Glu676Ter
ENST00000684463.1:n.664G>T
ENST00000684646.1:c.1813G>T	ENSP00000507723.1:p.Glu605Ter
ENST00000309971.9:c.2026G>T MANE Select	ENSP00000308622.5:p.Glu676Ter
ENST00000309971.8:c.2026G>T	ENSP00000308622.4:p.Glu676Ter
NM_001003722.1:c.2026G>T , LRG_484t1:c.2026G>T	NP_001003722.1:p.Glu676Ter
XM_006717059.2:c.2062G>T	XP_006717122.1:p.Glu688Ter
XM_006717060.2:c.2035G>T	XP_006717123.1:p.Glu679Ter
XM_011518549.1:c.2062G>T	XP_011516851.1:p.Glu688Ter
XM_011518550.1:c.2062G>T	XP_011516852.1:p.Glu688Ter
XM_011518551.1:c.2053G>T	XP_011516853.1:p.Glu685Ter
XM_011518552.1:c.1303G>T	XP_011516854.1:p.Glu435Ter
XR_242681.3:n.100+3043C>A
XR_428600.2:n.124+634C>A
XM_006717059.3:c.2062G>T	XP_006717122.1:p.Glu688Ter
XM_006717060.3:c.2035G>T	XP_006717123.1:p.Glu679Ter
XM_011518551.2:c.2053G>T	XP_011516853.1:p.Glu685Ter
XM_024447519.1:c.2035G>T	XP_024303287.1:p.Glu679Ter
XR_428600.3:n.126+634C>A
NM_001003722.2:c.2026G>T MANE Select	NP_001003722.1:p.Glu676Ter