Canonical Allele Identifier: CA467288836

Gene: GLE1

Linked Data

• ClinVar Variation Id: 2725290
• ClinVar RCV Id: RCV003554520
• MyVariant Identifiers: chr9:g.131303407T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541128T>C , CM000671.2:g.128541128T>C	GRCh38
NC_000009.11:g.131303407T>C , CM000671.1:g.131303407T>C	GRCh37
NC_000009.10:g.130343228T>C	NCBI36
NG_012073.1:g.41437T>C , LRG_484:g.41437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1126T>C	ENSP00000507095.1:n.*1126T>C
ENST00000683288.1:c.*2054T>C	ENSP00000507477.1:n.*2054T>C
ENST00000683748.1:c.2082T>C	ENSP00000507377.1:p.Pro694=
ENST00000683905.1:c.*731T>C	ENSP00000506960.1:n.*731T>C
ENST00000684139.1:c.1590T>C	ENSP00000507295.1:p.Pro530=
ENST00000684210.1:n.1768T>C
ENST00000684314.1:c.1950T>C	ENSP00000507700.1:p.Pro650=
ENST00000684331.1:c.*775T>C	ENSP00000507431.1:n.*775T>C
ENST00000684463.1:n.693T>C
ENST00000684646.1:c.1842T>C	ENSP00000507723.1:p.Pro614=
ENST00000309971.9:c.2055T>C MANE Select	ENSP00000308622.5:p.Pro685=
ENST00000309971.8:c.2055T>C	ENSP00000308622.4:p.Pro685=
NM_001003722.1:c.2055T>C , LRG_484t1:c.2055T>C	NP_001003722.1:p.Pro685=
XM_006717059.2:c.2091T>C	XP_006717122.1:p.Pro697=
XM_006717060.2:c.2064T>C	XP_006717123.1:p.Pro688=
XM_011518549.1:c.2091T>C	XP_011516851.1:p.Pro697=
XM_011518550.1:c.2091T>C	XP_011516852.1:p.Pro697=
XM_011518551.1:c.2082T>C	XP_011516853.1:p.Pro694=
XM_011518552.1:c.1332T>C	XP_011516854.1:p.Pro444=
XR_242681.3:n.100+2251A>G
XM_006717059.3:c.2091T>C	XP_006717122.1:p.Pro697=
XM_006717060.3:c.2064T>C	XP_006717123.1:p.Pro688=
XM_011518551.2:c.2082T>C	XP_011516853.1:p.Pro694=
XM_024447519.1:c.2064T>C	XP_024303287.1:p.Pro688=
NM_001003722.2:c.2055T>C MANE Select	NP_001003722.1:p.Pro685=