Canonical Allele Identifier: CA375046429

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303436T>G (hg19) ; chr9:g.128541157T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541157T>G , CM000671.2:g.128541157T>G	GRCh38
NC_000009.11:g.131303436T>G , CM000671.1:g.131303436T>G	GRCh37
NC_000009.10:g.130343257T>G	NCBI36
NG_012073.1:g.41466T>G , LRG_484:g.41466T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1155T>G	ENSP00000507095.1:n.*1155T>G
ENST00000683288.1:c.*2083T>G	ENSP00000507477.1:n.*2083T>G
ENST00000683748.1:c.2111T>G	ENSP00000507377.1:p.Phe704Cys
ENST00000683905.1:c.*760T>G	ENSP00000506960.1:n.*760T>G
ENST00000684139.1:c.1619T>G	ENSP00000507295.1:p.Phe540Cys
ENST00000684210.1:n.1797T>G
ENST00000684314.1:c.1979T>G	ENSP00000507700.1:p.Phe660Cys
ENST00000684331.1:c.*804T>G	ENSP00000507431.1:n.*804T>G
ENST00000684463.1:n.722T>G
ENST00000684646.1:c.1871T>G	ENSP00000507723.1:p.Phe624Cys
ENST00000309971.9:c.2084T>G MANE Select	ENSP00000308622.5:p.Phe695Cys
ENST00000309971.8:c.2084T>G	ENSP00000308622.4:p.Phe695Cys
NM_001003722.1:c.2084T>G , LRG_484t1:c.2084T>G	NP_001003722.1:p.Phe695Cys
XM_006717059.2:c.2120T>G	XP_006717122.1:p.Phe707Cys
XM_006717060.2:c.2093T>G	XP_006717123.1:p.Phe698Cys
XM_011518549.1:c.2120T>G	XP_011516851.1:p.Phe707Cys
XM_011518550.1:c.2120T>G	XP_011516852.1:p.Phe707Cys
XM_011518551.1:c.2111T>G	XP_011516853.1:p.Phe704Cys
XM_011518552.1:c.1361T>G	XP_011516854.1:p.Phe454Cys
XR_242681.3:n.100+2222A>C
XM_006717059.3:c.2120T>G	XP_006717122.1:p.Phe707Cys
XM_006717060.3:c.2093T>G	XP_006717123.1:p.Phe698Cys
XM_011518551.2:c.2111T>G	XP_011516853.1:p.Phe704Cys
XM_024447519.1:c.2093T>G	XP_024303287.1:p.Phe698Cys
NM_001003722.2:c.2084T>G MANE Select	NP_001003722.1:p.Phe695Cys