Canonical Allele Identifier: CA375046432

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303438T>G (hg19) ; chr9:g.128541159T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541159T>G , CM000671.2:g.128541159T>G	GRCh38
NC_000009.11:g.131303438T>G , CM000671.1:g.131303438T>G	GRCh37
NC_000009.10:g.130343259T>G	NCBI36
NG_012073.1:g.41468T>G , LRG_484:g.41468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1157T>G	ENSP00000507095.1:n.*1157T>G
ENST00000683288.1:c.*2085T>G	ENSP00000507477.1:n.*2085T>G
ENST00000683748.1:c.2113T>G	ENSP00000507377.1:p.Trp705Gly
ENST00000683905.1:c.*762T>G	ENSP00000506960.1:n.*762T>G
ENST00000684139.1:c.1621T>G	ENSP00000507295.1:p.Trp541Gly
ENST00000684210.1:n.1799T>G
ENST00000684314.1:c.1981T>G	ENSP00000507700.1:p.Trp661Gly
ENST00000684331.1:c.*806T>G	ENSP00000507431.1:n.*806T>G
ENST00000684463.1:n.724T>G
ENST00000684646.1:c.1873T>G	ENSP00000507723.1:p.Trp625Gly
ENST00000309971.9:c.2086T>G MANE Select	ENSP00000308622.5:p.Trp696Gly
ENST00000309971.8:c.2086T>G	ENSP00000308622.4:p.Trp696Gly
NM_001003722.1:c.2086T>G , LRG_484t1:c.2086T>G	NP_001003722.1:p.Trp696Gly
XM_006717059.2:c.2122T>G	XP_006717122.1:p.Trp708Gly
XM_006717060.2:c.2095T>G	XP_006717123.1:p.Trp699Gly
XM_011518549.1:c.2122T>G	XP_011516851.1:p.Trp708Gly
XM_011518550.1:c.2122T>G	XP_011516852.1:p.Trp708Gly
XM_011518551.1:c.2113T>G	XP_011516853.1:p.Trp705Gly
XM_011518552.1:c.1363T>G	XP_011516854.1:p.Trp455Gly
XR_242681.3:n.100+2220A>C
XM_006717059.3:c.2122T>G	XP_006717122.1:p.Trp708Gly
XM_006717060.3:c.2095T>G	XP_006717123.1:p.Trp699Gly
XM_011518551.2:c.2113T>G	XP_011516853.1:p.Trp705Gly
XM_024447519.1:c.2095T>G	XP_024303287.1:p.Trp699Gly
NM_001003722.2:c.2086T>G MANE Select	NP_001003722.1:p.Trp696Gly