Canonical Allele Identifier: CA375046233

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302589C>A (hg19) ; chr9:g.128540310C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540310C>A , CM000671.2:g.128540310C>A	GRCh38
NC_000009.11:g.131302589C>A , CM000671.1:g.131302589C>A	GRCh37
NC_000009.10:g.130342410C>A	NCBI36
NG_012073.1:g.40619C>A , LRG_484:g.40619C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1071C>A	ENSP00000507095.1:n.*1071C>A
ENST00000683288.1:c.*1999C>A	ENSP00000507477.1:n.*1999C>A
ENST00000683748.1:c.2027C>A	ENSP00000507377.1:p.Ser676Tyr
ENST00000683905.1:c.*676C>A	ENSP00000506960.1:n.*676C>A
ENST00000684139.1:c.1535C>A	ENSP00000507295.1:p.Ser512Tyr
ENST00000684210.1:n.1713C>A
ENST00000684314.1:c.1895C>A	ENSP00000507700.1:p.Ser632Tyr
ENST00000684331.1:c.2000C>A	ENSP00000507431.1:p.Ser667Tyr
ENST00000684463.1:n.638C>A
ENST00000684646.1:c.1787C>A	ENSP00000507723.1:p.Ser596Tyr
ENST00000309971.9:c.2000C>A MANE Select	ENSP00000308622.5:p.Ser667Tyr
ENST00000309971.8:c.2000C>A	ENSP00000308622.4:p.Ser667Tyr
NM_001003722.1:c.2000C>A , LRG_484t1:c.2000C>A	NP_001003722.1:p.Ser667Tyr
XM_006717059.2:c.2036C>A	XP_006717122.1:p.Ser679Tyr
XM_006717060.2:c.2009C>A	XP_006717123.1:p.Ser670Tyr
XM_011518549.1:c.2036C>A	XP_011516851.1:p.Ser679Tyr
XM_011518550.1:c.2036C>A	XP_011516852.1:p.Ser679Tyr
XM_011518551.1:c.2027C>A	XP_011516853.1:p.Ser676Tyr
XM_011518552.1:c.1277C>A	XP_011516854.1:p.Ser426Tyr
XR_242681.3:n.100+3069G>T
XR_428600.2:n.124+660G>T
XM_006717059.3:c.2036C>A	XP_006717122.1:p.Ser679Tyr
XM_006717060.3:c.2009C>A	XP_006717123.1:p.Ser670Tyr
XM_011518551.2:c.2027C>A	XP_011516853.1:p.Ser676Tyr
XM_024447519.1:c.2009C>A	XP_024303287.1:p.Ser670Tyr
XR_428600.3:n.126+660G>T
NM_001003722.2:c.2000C>A MANE Select	NP_001003722.1:p.Ser667Tyr