Canonical Allele Identifier: CA467286718

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302578A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540299A>C , CM000671.2:g.128540299A>C	GRCh38
NC_000009.11:g.131302578A>C , CM000671.1:g.131302578A>C	GRCh37
NC_000009.10:g.130342399A>C	NCBI36
NG_012073.1:g.40608A>C , LRG_484:g.40608A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1060A>C	ENSP00000507095.1:n.*1060A>C
ENST00000683288.1:c.*1988A>C	ENSP00000507477.1:n.*1988A>C
ENST00000683748.1:c.2016A>C	ENSP00000507377.1:p.Gly672=
ENST00000683905.1:c.*665A>C	ENSP00000506960.1:n.*665A>C
ENST00000684139.1:c.1524A>C	ENSP00000507295.1:p.Gly508=
ENST00000684210.1:n.1702A>C
ENST00000684314.1:c.1884A>C	ENSP00000507700.1:p.Gly628=
ENST00000684331.1:c.1989A>C	ENSP00000507431.1:p.Gly663=
ENST00000684463.1:n.627A>C
ENST00000684646.1:c.1776A>C	ENSP00000507723.1:p.Gly592=
ENST00000309971.9:c.1989A>C MANE Select	ENSP00000308622.5:p.Gly663=
ENST00000309971.8:c.1989A>C	ENSP00000308622.4:p.Gly663=
NM_001003722.1:c.1989A>C , LRG_484t1:c.1989A>C	NP_001003722.1:p.Gly663=
XM_006717059.2:c.2025A>C	XP_006717122.1:p.Gly675=
XM_006717060.2:c.1998A>C	XP_006717123.1:p.Gly666=
XM_011518549.1:c.2025A>C	XP_011516851.1:p.Gly675=
XM_011518550.1:c.2025A>C	XP_011516852.1:p.Gly675=
XM_011518551.1:c.2016A>C	XP_011516853.1:p.Gly672=
XM_011518552.1:c.1266A>C	XP_011516854.1:p.Gly422=
XR_242681.3:n.100+3080T>G
XR_428600.2:n.124+671T>G
XM_006717059.3:c.2025A>C	XP_006717122.1:p.Gly675=
XM_006717060.3:c.1998A>C	XP_006717123.1:p.Gly666=
XM_011518551.2:c.2016A>C	XP_011516853.1:p.Gly672=
XM_024447519.1:c.1998A>C	XP_024303287.1:p.Gly666=
XR_428600.3:n.126+671T>G
NM_001003722.2:c.1989A>C MANE Select	NP_001003722.1:p.Gly663=