Canonical Allele Identifier: CA375046454

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303448G>T (hg19) ; chr9:g.128541169G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541169G>T , CM000671.2:g.128541169G>T	GRCh38
NC_000009.11:g.131303448G>T , CM000671.1:g.131303448G>T	GRCh37
NC_000009.10:g.130343269G>T	NCBI36
NG_012073.1:g.41478G>T , LRG_484:g.41478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1167G>T	ENSP00000507095.1:n.*1167G>T
ENST00000683288.1:c.*2095G>T	ENSP00000507477.1:n.*2095G>T
ENST00000683748.1:c.2123G>T	ENSP00000507377.1:p.Ter708Leu
ENST00000683905.1:c.*772G>T	ENSP00000506960.1:n.*772G>T
ENST00000684139.1:c.1631G>T	ENSP00000507295.1:p.Ter544Leu
ENST00000684210.1:n.1809G>T
ENST00000684314.1:c.1991G>T	ENSP00000507700.1:p.Ter664Leu
ENST00000684331.1:c.*816G>T	ENSP00000507431.1:n.*816G>T
ENST00000684463.1:n.734G>T
ENST00000684646.1:c.1883G>T	ENSP00000507723.1:p.Ter628Leu
ENST00000309971.9:c.2096G>T MANE Select	ENSP00000308622.5:p.Ter699Leu
ENST00000309971.8:c.2096G>T	ENSP00000308622.4:p.Ter699Leu
NM_001003722.1:c.2096G>T , LRG_484t1:c.2096G>T	NP_001003722.1:p.Ter699Leu
XM_006717059.2:c.2132G>T	XP_006717122.1:p.Ter711Leu
XM_006717060.2:c.2105G>T	XP_006717123.1:p.Ter702Leu
XM_011518549.1:c.2132G>T	XP_011516851.1:p.Ter711Leu
XM_011518550.1:c.2132G>T	XP_011516852.1:p.Ter711Leu
XM_011518551.1:c.2123G>T	XP_011516853.1:p.Ter708Leu
XM_011518552.1:c.1373G>T	XP_011516854.1:p.Ter458Leu
XR_242681.3:n.100+2210C>A
XM_006717059.3:c.2132G>T	XP_006717122.1:p.Ter711Leu
XM_006717060.3:c.2105G>T	XP_006717123.1:p.Ter702Leu
XM_011518551.2:c.2123G>T	XP_011516853.1:p.Ter708Leu
XM_024447519.1:c.2105G>T	XP_024303287.1:p.Ter702Leu
NM_001003722.2:c.2096G>T MANE Select	NP_001003722.1:p.Ter699Leu