Canonical Allele Identifier: CA467286701

Gene: GLE1

Linked Data

• ClinVar Variation Id: 1997496
• ClinVar RCV Id: RCV002791802
• MyVariant Identifiers: chr9:g.131302557T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540278T>C , CM000671.2:g.128540278T>C	GRCh38
NC_000009.11:g.131302557T>C , CM000671.1:g.131302557T>C	GRCh37
NC_000009.10:g.130342378T>C	NCBI36
NG_012073.1:g.40587T>C , LRG_484:g.40587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1039T>C	ENSP00000507095.1:n.*1039T>C
ENST00000683288.1:c.*1967T>C	ENSP00000507477.1:n.*1967T>C
ENST00000683748.1:c.1995T>C	ENSP00000507377.1:p.Ile665=
ENST00000683905.1:c.*644T>C	ENSP00000506960.1:n.*644T>C
ENST00000684139.1:c.1503T>C	ENSP00000507295.1:p.Ile501=
ENST00000684210.1:n.1681T>C
ENST00000684314.1:c.1863T>C	ENSP00000507700.1:p.Ile621=
ENST00000684331.1:c.1968T>C	ENSP00000507431.1:p.Ile656=
ENST00000684463.1:n.606T>C
ENST00000684646.1:c.1755T>C	ENSP00000507723.1:p.Ile585=
ENST00000309971.9:c.1968T>C MANE Select	ENSP00000308622.5:p.Ile656=
ENST00000309971.8:c.1968T>C	ENSP00000308622.4:p.Ile656=
NM_001003722.1:c.1968T>C , LRG_484t1:c.1968T>C	NP_001003722.1:p.Ile656=
XM_006717059.2:c.2004T>C	XP_006717122.1:p.Ile668=
XM_006717060.2:c.1977T>C	XP_006717123.1:p.Ile659=
XM_011518549.1:c.2004T>C	XP_011516851.1:p.Ile668=
XM_011518550.1:c.2004T>C	XP_011516852.1:p.Ile668=
XM_011518551.1:c.1995T>C	XP_011516853.1:p.Ile665=
XM_011518552.1:c.1245T>C	XP_011516854.1:p.Ile415=
XR_242681.3:n.100+3101A>G
XR_428600.2:n.124+692A>G
XM_006717059.3:c.2004T>C	XP_006717122.1:p.Ile668=
XM_006717060.3:c.1977T>C	XP_006717123.1:p.Ile659=
XM_011518551.2:c.1995T>C	XP_011516853.1:p.Ile665=
XM_024447519.1:c.1977T>C	XP_024303287.1:p.Ile659=
XR_428600.3:n.126+692A>G
NM_001003722.2:c.1968T>C MANE Select	NP_001003722.1:p.Ile656=